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Cri-du-chat (Cat's Cry) Syndrome, 1998-1999

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DEFINITION OF TERM: An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).

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Record 1 of 22 in MEDLINE EXPRESS (R) 1998/11-1999/01

TITLE: Chromosome healing of constitutional chromosome deletions studied by microdissection. AUTHOR(S): Vermeesch-JR; Falzetti-D; Van-Buggenhout-G; Fryns-JP; Marynen-P ADDRESS OF AUTHOR: Center for Human Genetics, Flanders Interuniversity Institute for Biotechnology, University of Leuven, Leuven (Belgium). SOURCE (BIBLIOGRAPHIC CITATION): Cytogenet-Cell-Genet. 1998; 81(1): 68-72 INTERNATIONAL STANDARD SERIAL NUMBER: 0301-0171 PUBLICATION YEAR: 1998

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: SWITZERLAND

ABSTRACT: Broken chromosomes are highly unstable and are subject to chromosome fusion or loss. As an exception, healing of human chromosomes occurs which can lead to constitutional or acquired terminal chromosome deletion disorders. Both de novo telomere addition at the breakpoint and telomere capture have been implicated as healing mechanisms. We investigated the origin of the novel ends of chromosomes 4p and 5p in a patient with the Wolf-Hirschhorn syndrome and in 4 patients with the Cri-du-Chat syndrome by chromosome microdissection. Our results suggest that de novo telomere synthesis by telomerase is the main mechanism of chromosome healing in constitutional chromosome deletions. MINOR MESH HEADINGS: Abnormalities,-Multiple-genetics; Abnormalities,-Multiple-pathology; Adolescence-; Adult-; Chromosomes,-Human,-Pair-4-genetics; Chromosomes,-Human,-Pair-4-metabolism; Chromosomes,-Human,-Pair-5-genetics; Chromosomes,-Human,-Pair-5-metabolism; Cri-du-Chat-Syndrome-genetics; Cri-du-Chat-Syndrome-pathology; Dissection-methods; In-Situ-Hybridization,-Fluorescence; Karyotyping-; Mental-Retardation-genetics; Mental-Retardation-pathology; Middle-Age; Syndrome-; Telomere-genetics; Telomere-metabolism MAJOR MeSH HEADINGS: *Chromosome-Aberrations-genetics; *Chromosome-Deletion; *DNA-Repair CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 98358149

UPDATE CODE: 9812

Record 2 of 22 in MEDLINE EXPRESS (R) 1998/11-1999/01

TITLE: A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization. AUTHOR(S): Flaherty-L; Moloney-J; Watson-N; Robson-L; Bousfield-L; Smith-A ADDRESS OF AUTHOR: Department of Cytogenetics, New Children's Hospital, Westmead, New South Wales, Australia. SOURCE (BIBLIOGRAPHIC CITATION): J-Intellect-Disabil-Res. 1998 Jun; 42 ( Pt 3): 254-8 INTERNATIONAL STANDARD SERIAL NUMBER: 0964-2633 PUBLICATION YEAR: 1998

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: A case is presented in which monosomy 21 was detected by routine cytogenetics and fluorescence in situ hybridization (FISH) studies demonstrated an unbalanced translocation t(5;21). The patient was partially monosomic for both 5p and 21q. The phenotype of the infant showed some features of the 5p- (cri-du-chat) syndrome, but there were also features present which were uncharacteristic of this syndrome. The present findings, combined with similar cases reported in the literature, provide further support for a proximal monosomy 21q syndrome. MINOR MESH HEADINGS: Chromosome-Abnormalities-genetics; Chromosome-Deletion; Chromosomes,-Human,-Pair-5-genetics; Cri-du-Chat-Syndrome-genetics; Fluorescence-; In-Situ-Hybridization-methods; Infant,-Newborn; Karyotyping- MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-21-genetics; *Monosomy-diagnosis; *Monosomy-genetics CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES MEDLINE ACCESSION NUMBER: 98341550

UPDATE CODE: 9812

Record 3 of 22 in MEDLINE EXPRESS (R) 1998/01-1998/10

TITLE: Receptive and expressive language skills in children with cri-du-chat syndrome. AUTHOR(S): Cornish-KM; Munir-F

ADDRESS OF AUTHOR: Medical School, University of Nottingham, United Kingdom. K.Cornish@Nottingham.ac.uk SOURCE (BIBLIOGRAPHIC CITATION): J-Commun-Disord. 1998 Jan-Feb; 31(1): 73-80; quiz 80-1 INTERNATIONAL STANDARD SERIAL NUMBER: 0021-9924 PUBLICATION YEAR: 1998

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Receptive and expressive language skills were assessed in 13 children with cri-du-chat syndrome. Two patterns of performance were found. One pattern was the discrepancy between the children's chronological ages and their presumed language ages. The second pattern was the receptive-expressive discrepancy with reduced expressive skills compared to receptive skills. One implication of these findings is that remediation that focuses on receptive skills may be more effective than traditional verbal methods. MINOR MESH HEADINGS: Adolescence-; Age-Distribution; Child-; Child,-Preschool; Language-Tests; Speech-Production-Measurement MAJOR MeSH HEADINGS: *Cri-du-Chat-Syndrome-complications; *Language-Disorders-complications; *Language-Disorders-diagnosis; *Speech-Disorders-complications; *Speech-Disorders-diagnosis CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 98083546

UPDATE CODE: 9805

Record 4 of 22 in MEDLINE EXPRESS (R) 1998/01-1998/10

TITLE: Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval. AUTHOR(S): Simmons-AD; Puschel-AW; McPherson-JD; Overhauser-J; Lovett-M ADDRESS OF AUTHOR: Department of Otorhinolaryngology, University of Texas Southwestern Medical Center, Dallas 75235-8591, USA. SOURCE (BIBLIOGRAPHIC CITATION): Biochem-Biophys-Res-Commun. 1998 Jan 26; 242(3): 685-91 INTERNATIONAL STANDARD SERIAL NUMBER: 0006-291X PUBLICATION YEAR: 1998

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Cri-du-chat is a human contiguous gene deletion syndrome resulting from hemizygous deletions of chromosome 5p. Here we describe the isolation from within this interval of the human Semaphorin F (SEMAF) gene, a member of a family of proteins that has been implicated in axonal pathfinding. The human SEMAF gene covers at least 10% of the deleted region and defines a new class within this large gene family characterized by the presence of seven type 1 thrombospondin repeats. Prominent expression of murine semaphorin F (Semaf) was observed in the mouse brain, consistent with a role for semaphorin F as a signaling molecule that guides axons or migrating neuronal precursors during development. The known functions of semaphorins and the interesting pattern of expression for Semaf suggest that haploinsufficiency for SEMAF may disrupt normal brain development and might lead to some of the features of Cri-du-chat. MINOR MESH HEADINGS: Amino-Acid-Sequence; Blotting,-Northern; Brain-cytology; Brain-growth-and-development; Chromosome-Mapping; Chromosomes,-Human,-Pair-5-genetics; Cloning,-Molecular; Gene-Expression-Regulation-genetics; In-Situ-Hybridization; Membrane-Proteins-genetics; Mice-; Molecular-Sequence-Data; Nerve-Tissue-Proteins-genetics; Repetitive-Sequences,-Nucleic-Acid-genetics; RNA-Splicing-genetics; Sequence-Alignment; Sequence-Analysis,-DNA; Sequence-Deletion-genetics; Thrombospondins-genetics MAJOR MeSH HEADINGS: *Cri-du-Chat-Syndrome-genetics; *Membrane-Proteins-chemistry; *Nerve-Tissue-Proteins-chemistry CHECKTAGS: Animal; Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S. PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: HD33447HDNICHD; HG00038HGNCHGR CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0 NAME OF SUBSTANCE: semaphorin-F; Membrane-Proteins; Nerve-Tissue-Proteins; Thrombospondins MEDLINE ACCESSION NUMBER: 98125554

UPDATE CODE: 9805

Record 5 of 22 in MEDLINE EXPRESS (R) 1997

TITLE: Isolation of cDNAs from the Cri-du-chat critical region by direct screening of a chromosome 5-specific cDNA library. AUTHOR(S): Simmons-AD; Overhauser-J; Lovett-M ADDRESS OF AUTHOR: Department of Otorhinolaryngology, University of Texas Southwestern Medical Center at Dallas 75235, USA. SOURCE (BIBLIOGRAPHIC CITATION): Genome-Res. 1997 Feb; 7(2): 118-27 INTERNATIONAL STANDARD SERIAL NUMBER: 1088-9051 PUBLICATION YEAR: 1997

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Chromosome-specific cDNA libraries are new tools for the isolation of genes from specific genomic regions. We have used two YACs than span the approximately 2-Mb cri-du-chat critical region (CDCCR) of chromosome 5p to directly screen a chromosome 5-specific (CH5SP) fetal brain cDNA library. To compare this library with other sources for new gene discovery, the YACs were hybridized to a normalized infant brain (NIB) cDNA library that has been used extensively for expressed sequence tag (EST) generation. These screens yielded 12 cDNAs from the CH5SP fetal brain library and four cDNAs from the NIB library that mapped to discrete intervals within the CDCCR. Four cDNAs mapped within the minimal CDCCR deletion interval, with the remaining cDNAs being located beyond the boundaries. Only one cDNA shared sequence overlap between the CH5SP and NIB sets of clones. None of the remaining 11 CH5SP cDNAs were homologous to EST sequences, suggesting, in common with previous data on these libraries, that chromosome-specific cDNA libraries are a rich source of new expressed sequences. The single cDNA that did overlap with the NIB library contained two copies of a sequence motif shared with thrombospondin, properdin, and several complement proteins. This motif is usually present in adhesive proteins, and appears to mediate cell-cell or cell-substrate interactions. This new thrombospondin-like gene, and the other three cDNAs that map within the CDCCR, represent candidate genes for the cri-du-chat contiguous gene deletion syndrome. MINOR MESH HEADINGS: Amino-Acid-Sequence; Blotting,-Northern; Brain-metabolism; Chromosomes,-Yeast-Artificial-genetics; Complement-genetics; DNA-metabolism; Fetus-metabolism; Gene-Expression; Gene-Library; Genetic-Techniques; Membrane-Glycoproteins-genetics; Molecular-Sequence-Data; Nucleic-Acid-Hybridization; Properdin-genetics; Sequence-Analysis,-DNA; Sequence-Deletion; Sequence-Homology,-Amino-Acid; Sequence-Tagged-Sites MAJOR MeSH HEADINGS: *Chromosome-Mapping; *Chromosomes,-Human,-Pair-5-genetics; *Cri-du-Chat-Syndrome-genetics; *DNA,-Complementary-isolation-and-purification CHECKTAGS: Human; Support,-U.S.-Gov't,-P.H.S. PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: HG00368HGNHGRI; HG00236HGNHGRI; HG00038HGNHGRI CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 11016-39-0; 9007-36-7; 9007-49-2 NAME OF SUBSTANCE: DNA,-Complementary; Membrane-Glycoproteins; Thrombospondins; Properdin; Complement; DNA MEDLINE ACCESSION NUMBER: 97202103

UPDATE CODE: 9707

SECONDARY SOURCE IDENTIFIER: GENBANK/U52827; GENBANK/U52828; GENBANK/U52829; GENBANK/U52830; GENBANK/U52831; GENBANK/U52832; GENBANK/U52833; GENBANK/U52834; GENBANK/U52835; GENBANK/U52836; GENBANK/U52837; GENBANK/U52838; GENBANK/U52839; GENBANK/U52840; SWISSPROT/P07996; SWISSPROT/P35442

Record 6 of 22 in MEDLINE EXPRESS (R) 1997

TITLE: Development of diagnostic tools for the analysis of 5p deletions using interphase FISH. AUTHOR(S): Gersh-M; Grady-D; Rojas-K; Lovett-M; Moyzis-R; Overhauser-J ADDRESS OF AUTHOR: Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, Philadelphia, PA 19107, USA. SOURCE (BIBLIOGRAPHIC CITATION): Cytogenet-Cell-Genet. 1997; 77(3-4): 246-51 INTERNATIONAL STANDARD SERIAL NUMBER: 0301-0171 PUBLICATION YEAR: 1997

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: SWITZERLAND

ABSTRACT: Cri-du-chat syndrome is associated with a deletion of the short arm of chromosome 5. Through the phenotypic and molecular analyses of individuals with a subset of the features associated with the syndrome, the genes involved in the syndrome have been mapped to two distinct critical regions. Deletion of a critical region in 5p15.2 results in the distinct facial features associated with the syndrome as well as the severe mental and developmental delay, while a deletion of 5p15.3 is associated only with the characteristic cat-like cry, the key diagnostic feature of the syndrome. Therefore, subtle differences in the extent of the 5p deletion can have a profound affect on the prognosis of the patient. In order to more easily differentiate between deletions that lead to the cri-du-chat syndrome phenotype and deletions that lead only to the isolated cat-like cry, we have constructed YAC contigs that span both critical regions. The YAC clones have been used to isolate cosmi ds mapping to each critical region and cosmids that lie just within the two critical region boundaries have been identified. We report here on the use of these cosmids as probes for fluorescent in situ hybridization experiments on interphase nuclei as a means of more accurately differentiating between small 5p deletions that coincide with a complete cri-du-chat syndrome phenotype and the severe mental and developmental delay that is associated with it and deletions that only delete the distal critical region that coincide with the isolated cat-like cry and a much improved prognosis. MINOR MESH HEADINGS: Base-Sequence; Chromosome-Mapping; Chromosomes,-Human,-Pair-5-ultrastructure; Chromosomes,-Yeast-Artificial-genetics; Cri-du-Chat-Syndrome-physiopathology; Crying-; DNA-Primers-genetics; Face-abnormalities; Genetic-Markers; Hamsters-; Hybrid-Cells; Interphase-genetics; Mental-Retardation-genetics; Phenotype-; Polymerase-Chain-Reaction; Sequence-Tagged-Sites MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-5-genetics; *Cri-du-Chat-Syndrome-diagnosis; *Cri-du-Chat-Syndrome-genetics; *In-Situ-Hybridization,-Fluorescence-methods CHECKTAGS: Animal; Human; Support,-U.S.-Gov't,-P.H.S. PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: HG00236HGNHGRI; T32CA09678CANCI CAS REGISTRY NUMBER OR EC NUMBER: 0; 0

NAME OF SUBSTANCE: DNA-Primers; Genetic-Markers MEDLINE ACCESSION NUMBER: 97430827

UPDATE CODE: 9711

Record 7 of 22 in MEDLINE EXPRESS (R) 1996

TITLE: Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalities. AUTHOR(S): Muller-Navia-J; Nebel-A; Oehler-D; Theile-U; Zabel-B; Schleiermacher-E ADDRESS OF AUTHOR: Institut fur Anthropologie, Johannes Gutenberg-Universitat Mainz, Germany. SOURCE (BIBLIOGRAPHIC CITATION): Prenat-Diagn. 1996 Oct; 16(10): 915-22 INTERNATIONAL STANDARD SERIAL NUMBER: 0197-3851 PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: Reverse chromosome painting has become a powerful tool in clinical genetics for the characterization of cytogenetically unclassifiable aberrations. In this report, the application of a sensitive and rapid procedure for the complete and precise identification of four different de novo structural chromosome abnormalities is presented. These chromosome rearrangements include a marker derived from chromosome 3(cen-q11), an interstitial deletion of chromosome 13 [del(13)(q14q22)], an unbalanced translocation [46,XY, -4, +der(4)t(4;8)(p 15.2;p21.1)] leading to Wolf-Hirschhorn syndrome, and a partial inverted duplication in conjunction with a partial deletion of chromosome 5p [46,XX, -5, +der(5)(:p13-p15.1::p15.1-qter)] which is responsible for the manifestation of the cri-du-chat syndrome. The importance of a fast and reliable evaluation of complex chromosome aberrations in pre- and postnatal diagnosis with regard to comprehensive genetic counselling is emphasized. MINOR MESH HEADINGS: Chromosomes,-Human,-Pair-13; Chromosomes,-Human,-Pair-3; Chromosomes,-Human,-Pair-4; Chromosomes,-Human,-Pair-8; Cri-du-Chat-Syndrome-genetics; Dissection-; Gene-Deletion; In-Situ-Hybridization,-Fluorescence; Infant,-Newborn; Pregnancy-; Translocation-Genetics MAJOR MeSH HEADINGS: *Chromosome-Aberrations; *Genetic-Techniques; *Polymerase-Chain-Reaction; *Prenatal-Diagnosis CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 97092395

UPDATE CODE: 9705

Record 8 of 22 in MEDLINE EXPRESS (R) 1996

TITLE: [A male infant with 47, XXX del (5) (p13p15) chromosomes: clinical manifestations of the cri-du-chat syndrome and Klinefelter syndrome] AUTHOR(S): Shibui-H; Tatuma-N; Kaneko-K; Maeda-M; Yamamoto-M SOURCE (BIBLIOGRAPHIC CITATION): No-To-Hattatsu. 1996 Sep; 28(5): 448-50 INTERNATIONAL STANDARD SERIAL NUMBER: 0029-0831 PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH COUNTRY OF PUBLICATION: JAPAN

MINOR MESH HEADINGS: Chromosome-Deletion; Chromosomes,-Human,-Pair-13; Chromosomes,-Human,-Pair-15; Infant-; Sex-Chromosomes MAJOR MeSH HEADINGS: *Cri-du-Chat-Syndrome-genetics; *Klinefelter's-Syndrome-genetics CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 96428087

UPDATE CODE: 9702

Record 9 of 22 in MEDLINE EXPRESS (R) 1996

TITLE: [The progression of a case in the cri-du-chat syndrome: otolaryngological, cognitive and language characteristics] ORIGINAL TITLE: L'evolution d'un cas de syndrome du cri du chat: caracteristiques ORL, cognitives et langagieres. AUTHOR(S): Pierart-B; Remacle-M

ADDRESS OF AUTHOR: Universite de Louvain, Service d'ORL, Bruxelles, Belgique. SOURCE (BIBLIOGRAPHIC CITATION): Folia-Phoniatr-Logop. 1996; 48(5): 223-30 INTERNATIONAL STANDARD SERIAL NUMBER: 1021-7762 PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: FRENCH; NON-ENGLISH COUNTRY OF PUBLICATION: SWITZERLAND

ABSTRACT: This article presents the results of the ORL, cognitive and speech examinations of a boy aged 12 years, 9 months with cat cry syndrome. The laryngeal function has normalized but a small mandibular deficiency persists. The cognitive function corresponds to a mental age of less than 3 years with a complete blockade for abstraction but a good adaptation for concrete and practical situations. The linguistic examination was performed in two complementary pragmatic contexts: standard testing and semi-induced play. The referential and expressive functions are relatively good but with a poor adaptation to the interlocutors. The cognitive-semantic function of J.M. in naming and for space relation markers corresponds to about 4 1/2 years, which is better than what could be expected based on his cognitive level on the intelligence scales. Nevertheless, the child's syntactic characteristics are those of a 3-year-old child. Therefore the disparity between the cognitive-semanti c, the syntactic and the nonlinguistic cognitive functions is negligible. Only the pragmatic function of the child remains much weaker than that achieved for the other facets of his language. The linguistic results of this case of cat cry syndrome are compared with those of children of the same age and mental level with trisomy 21 or other moderate mental handicaps. MINOR MESH HEADINGS: Child-; Chromosome-Abnormalities; Chromosomes,-Human,-Pair-5; Cognition-Disorders-diagnosis; Cri-du-Chat-Syndrome-genetics; English-Abstract; Intelligence-Tests; Language-Disorders-diagnosis MAJOR MeSH HEADINGS: *Cri-du-Chat-Syndrome CHECKTAGS: Case-Report; Comparative-Study; English-Abstract; Human; Male PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 96425971

UPDATE CODE: 9701

Record 10 of 22 in MEDLINE EXPRESS (R) 1996

TITLE: Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome. AUTHOR(S): Goodart-SA; Butler-MG; Overhauser-J ADDRESS OF AUTHOR: Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA. SOURCE (BIBLIOGRAPHIC CITATION): Hum-Genet. 1996 Jun; 97(6): 802-7 INTERNATIONAL STANDARD SERIAL NUMBER: 0340-6717 PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: GERMANY

ABSTRACT: Fluorescence in situ hybridization analysis was performed to characterize a complex pericentric inversion involving chromosome 5 in a mother and son. The mother had hypertelorism, epicanthal folds, and mild mental deficiency while the son had additional anomalies that have been observed in patients with cri-du-chat syndrome. Both individuals were found to have an identical double pericentric inversion [inv5(p15.1q31(inv5(p14q12)))]. Neither inversion breakpoint mapped near the chromosomal regions implicated in the cri-du-chat syndrome. The phenotype of the son suggests that the inversion process may have affected the expression of some of the cri-du-chat syndrome genes, suggestive of a genomic imprinting or penetrance effect. MINOR MESH HEADINGS: Adult-; In-Situ-Hybridization,-Fluorescence; Infant-; Karyotyping-; Phenotype- MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-5-genetics; *Cri-du-Chat-Syndrome-genetics; *Inversion-Genetics CHECKTAGS: Case-Report; Female; Human; Male; Support,-U.S.-Gov't,-P.H.S. PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: HG0237HGNHGRI MEDLINE ACCESSION NUMBER: 96235277

UPDATE CODE: 9609

Record 11 of 22 in MEDLINE EXPRESS (R) 1991 - 1995

TITLE: Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. AUTHOR(S): Gersh-M; Goodart-SA; Pasztor-LM; Harris-DJ; Weiss-L; Overhauser-J ADDRESS OF AUTHOR: Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA. SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1995 Jun; 56(6): 1404-10 INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297 PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: The cri-du-chat syndrome is a contiguous gene syndrome that results from a deletion of the short arm of chromosome 5 (5p). Patients present with a cat-like cry at birth, which is usually considered diagnostic of this syndrome. Additional features of the syndrome include failure to thrive, microcephaly, hypertelorism, epicanthal folds, hypotonia, and severe mental retardation. We report on four families in which patients with 5p deletions have only the characteristic cat-like cry, with normal to mildly delayed development. The precise locations of the deletions in each family were determined by FISH using lambda phage and cosmid clones. All of the deletion breakpoints map distal to a chromosomal region that is implicated with the facial features and severe mental and developmental delay in the cri-du-chat syndrome. DNA clones mapping in the chromosomal region associated with the cat-like cry feature will be useful diagnostic tools. They will allow for the distincti on between 5p deletions that will result in the severe delay observed in most cri-du-chat syndrome patients and those deletions that result in the isolated cat-like cry feature, which is associated with a better prognosis.MINOR MESH HEADINGS: Adult-; Chromosome-Mapping; In-Situ-Hybridization,-Fluorescence; Infant-; Infant,-Newborn; Karyotyping-; Models,-Genetic; Pedigree- MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-5-genetics; *Cri-du-Chat-Syndrome-genetics; *Sequence-Deletion; *Voice-Disorders-genetics CHECKTAGS: Case-Report; Comparative-Study; Female; Human; Male; Support,-U.S.-Gov't,-P.H.S. PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: HG00236HGNHGRI; T32CA09678CANCI MEDLINE ACCESSION NUMBER: 95282788

UPDATE CODE: 9509

Record 12 of 22 in MEDLINE EXPRESS (R) 1991 - 1995

TITLE: Five novel genes from the cri-du-chat critical region isolated by direct selection. AUTHOR(S): Simmons-AD; Goodart-SA; Gallardo-TD; Overhauser-J; Lovett-M ADDRESS OF AUTHOR: Department of Biochemistry, University of Texas Southwestern Medical Center at Dallas 75235-8591, USA. SOURCE (BIBLIOGRAPHIC CITATION): Hum-Mol-Genet. 1995 Feb; 4(2): 295-302 INTERNATIONAL STANDARD SERIAL NUMBER: 0964-6906 PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: Cri-du-chat is a well described partial aneusomy resulting from deletion of the short arm of chromosome 5. The hallmark clinical feature of cri-du-chat, a high-pitched monochromatic cry, has recently been localized to 5p15.3, separate from the remaining clinical features of the syndrome, which have been localized to 5p15.2. Five chromosome 5-specific probes from the latter region, designated the cri-du-chat critical region (CDCCR), were used to isolate 30 cosmids from the LANL chromosome 5 specific cosmid library. The 30 framework cosmids were used in a direct selection with three cDNA sources to isolate an initial set of expressed sequences. Nine unique cDNAs were found that hybridized to four discrete sets of cosmids in the CDCCR. The nine cDNAs are novel by sequence database comparisons, and conservatively represent four transcription units. More recently, we have also constructed a YAC contig of the CDCCR which spans approximately 2 Mb. As expected, ESTs deriv ed from the nine novel cDNAs map back to the contig. Limited expression profiles of these cDNAs have been obtained. Two cDNAs that map to one discrete set of cosmids have different expression patterns, suggesting that they represent two different genes and increasing the number of putative genes to five. Further characterization of these genes and the estimated 100 additional genes deleted in cri-du-chat should lead to better diagnostic markers and an understanding of the molecular mechanisms of the disease. MINOR MESH HEADINGS: Base-Sequence; Chromosome-Mapping; Cloning,-Molecular; Cosmids-; DNA,-Complementary; Gene-Expression; Molecular-Sequence-Data; Sequence-Analysis,-DNA MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-5; *Cri-du-Chat-Syndrome-genetics CHECKTAGS: Human; Support,-U.S.-Gov't,-P.H.S. PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: HG00236HGNHGRI; HG00882HGNHGRI CAS REGISTRY NUMBER OR EC NUMBER: 0; 0

NAME OF SUBSTANCE: Cosmids; DNA,-Complementary MEDLINE ACCESSION NUMBER: 95276746

UPDATE CODE: 9509

SECONDARY SOURCE IDENTIFIER: GENBANK/U10508; GENBANK/U10509; GENBANK/U10510; GENBANK/U10511; GENBANK/U10512; GENBANK/U10513; GENBANK/U10514; GENBANK/U10515; GENBANK/U12028

Record 13 of 22 in MEDLINE EXPRESS (R) 1991 - 1995

TITLE: [The human genome--chromosome 5]

ORIGINAL TITLE: Lidsky genom--chromozom c. 5. AUTHOR(S): Brdicka-R

ADDRESS OF AUTHOR: Ustav Hematologie a Krevni Transfuze, Praha. SOURCE (BIBLIOGRAPHIC CITATION): Cas-Lek-Cesk. 1995 Mar 8; 134(5): 147-8 INTERNATIONAL STANDARD SERIAL NUMBER: 0008-7335 PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: CZECH; NON-ENGLISH

COUNTRY OF PUBLICATION: CZECH-REPUBLIC

ABSTRACT: From the historical aspect the fifth human chromosome is associated with the cri-du-chat syndrome conditioned by deletion of the short arms. The fifth human chromosome is the carrier of genes the pathogenic alleles of which cause one of the most frequent recessive hereditary diseases of child age--spinal muscular atrophy (SMA), the development of tumours of the large bowel and a group of haematological malignant conditions which are part of the so-called 5q-syndrome. It is the carrier of some important gene families-complement, interleukins and growth factors and their receptors; loss of some of them participates in the mentioned 5q-syndrome. MINOR MESH HEADINGS: English-Abstract; Genetics,-Medical MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-5 CHECKTAGS: English-Abstract; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 95246115

UPDATE CODE: 9508

Record 14 of 22 in MEDLINE EXPRESS (R) 1991 - 1995

TITLE: Physical mapping of genetic markers on the short arm of chromosome 5. AUTHOR(S): Gersh-M; Goodart-SA; Overhauser-J ADDRESS OF AUTHOR: Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107. SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1994 Dec; 24(3): 577-9 INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543 PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: The deletion of the short arm of chromosome 5 is associated with the cri-du-chat syndrome. In addition, loss of this portion of a chromosome is a common cytogenetic marker in a number of malignancies. However, to date, no genes associated with these disorders have been identified. Physical maps are the first step in isolating causative genes, and genes involved in autosomal recessive disorders are now routinely mapped through the identification of linked markers. Extensive genetic maps based upon polymorphic short tandem repeats (STRs) have provided researchers with a large number of markers to which such disorders can be genetically mapped. However, the physical locations of many of these STRs have not been determined. Toward the goal of integrating the human genetic maps with the physical maps, a 5p somatic cell hybrid deletion mapping panel that was derived from patients with 5p deletions or translocations was used to physically map 47 STRs that have been used to construct genetic maps of 5p. These data will be useful in the localization of disease genes that map to 5p and may be involved in the etiology of the cri-du-chat syndrome. MINOR MESH HEADINGS: Chromosome-Deletion; Chromosomes,-Human,-Pair-5-ultrastructure; Cri-du-Chat-Syndrome-genetics; DNA-Primers; Hamsters-; Hybrid-Cells; Linkage-Genetics; Polymerase-Chain-Reaction; Repetitive-Sequences,-Nucleic-Acid; Translocation-Genetics MAJOR MeSH HEADINGS: *Chromosome-Mapping; *Chromosomes,-Human,-Pair-5; *Genetic-Markers CHECKTAGS: Animal; Human; Support,-U.S.-Gov't,-P.H.S. PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: HG037HGNHGRI; T32CA09678CANCI CAS REGISTRY NUMBER OR EC NUMBER: 0; 0

NAME OF SUBSTANCE: DNA-Primers; Genetic-Markers MEDLINE ACCESSION NUMBER: 95229159

UPDATE CODE: 9507

Record 15 of 22 in MEDLINE EXPRESS (R) 1991 - 1995

TITLE: A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. AUTHOR(S): Goodart-SA; Simmons-AD; Grady-D; Rojas-K; Moyzis-RK; Lovett-M; Overhauser-J ADDRESS OF AUTHOR: Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107. SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1994 Nov 1; 24(1): 63-8 INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543 PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Cri-du-chat is a chromosomal deletion syndrome characterized by partial deletion of the short arm of chromosome 5. The clinical symptoms include growth and mental retardation, microcephaly, hypertelorism, epicanthal folds, hypotonia, and a high-pitched monochromatic cry that is usually considered diagnostic for the syndrome. Recently, a correlation between clinical features and the extent of the chromosome 5 deletions has identified two regions of the short arm that appear to be critical for the abnormal development manifested in this syndrome. Loss of a small region in 5p15.2 correlates with all of the clinical features of cri-du-chat with the exception of the cat-like cry, which maps to 5p15.3. Here we report the construction of a YAC contig that spans the chromosomal region in 5p15.2 that plays a major role in the etiology of the cri-du-chat syndrome. YACs that span the 2-Mb cri-du-chat critical region have been identified and characterized. This YAC contig lay s the groundwork for the construction of a transcriptional map of this region and the eventual identification of genes involved in the clinical features associated with the cri-du-chat syndrome. It also provides a new diagnostic tool for cri-du-chat in the shape of a YAC clone that may span the entire critical region. MINOR MESH HEADINGS: Base-Sequence; Chromosome-Deletion; Chromosomes,-Human,-Pair-5; DNA-Primers; Hybrid-Cells; Molecular-Sequence-Data; Sequence-Tagged-Sites MAJOR MeSH HEADINGS: *Chromosomes,-Yeast-Artificial; *Cri-du-Chat-Syndrome-genetics CHECKTAGS: Human; Support,-U.S.-Gov't,-Non-P.H.S.; Support,-U.S.-Gov't,-P.H.S. GENE SYMBOL: CDCCR

PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: HG0237HGNHGRI CAS REGISTRY NUMBER OR EC NUMBER: 0

NAME OF SUBSTANCE: DNA-Primers

MEDLINE ACCESSION NUMBER: 95203891

UPDATE CODE: 9506

Record 16 of 22 in MEDLINE EXPRESS (R) 1991 - 1995

TITLE: [Study of protein products of gene expression in cells with altered chromosome sets for genetic mapping] ORIGINAL TITLE: Izuchenie belkovykh produktov gennoi ekspressii v kletkakh s izmenennym naborom khromosom dlia geneticheskogo kartirovaniia. AUTHOR(S): Shishkin-SS; Zakharov-SF; Gromov-PS; Shcheglova-MV; Kukharenko-VI; Shilov-AG; Matveeva-HM; Zhdanova-NS; Efimochkin-AS; Krokhina-TB; et-al SOURCE (BIBLIOGRAPHIC CITATION): Genetika. 1994 Dec; 30(12): 1573-81 INTERNATIONAL STANDARD SERIAL NUMBER: 0016-6758 PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: RUSSIAN; NON-ENGLISH COUNTRY OF PUBLICATION: RUSSIA

ABSTRACT: Two-dimensional electrophoresis was used for analyzing proteins in hybrid cells that contained single human chromosomes (chromosome 5, chromosome 21, or chromosomes 5 and 21) against the background of the mouse genome. By comparing the protein patterns of hybrid and parent cells (about 1000 protein fractions for each kind of cell), five fractions among proteins of hybrid cells were supposedly identified as human proteins. The genes of two of them are probably located on chromosome 5, and those of other three, on chromosome 21. Moreover, analysis of proteins in fibroblasts of patients with the cri-du-chat syndrome (5p-) revealed a decrease in the content of two proteins, as compared with those in preparations of diploid fibroblasts. This fact was regarded as evidence that two corresponding genes are located on the short arm of chromosome 5. Methodological problems associated with the use of protein pattern analysis in cells with altered chromosome sets for the purp os es of genetic mapping are discussed.

MINOR MESH HEADINGS: Cri-du-Chat-Syndrome-genetics; Electrophoresis,-Gel,-Two-Dimensional; English-Abstract; Fibroblasts-metabolism; Hybrid-Cells; Mice- MAJOR MeSH HEADINGS: *Chromosome-Mapping; *Chromosomes,-Human,-Pair-21; *Chromosomes,-Human,-Pair-5; *Gene-Expression; *Proteins-genetics CHECKTAGS: Animal; English-Abstract; Human PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 0

NAME OF SUBSTANCE: Proteins

MEDLINE ACCESSION NUMBER: 95196984

UPDATE CODE: 9506

Record 17 of 22 in MEDLINE EXPRESS (R) 1991 - 1995

TITLE: Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. AUTHOR(S): Overhauser-J; Huang-X; Gersh-M; Wilson-W; McMahon-J; Bengtsson-U; Rojas-K; Meyer-M; Wasmuth-JJ ADDRESS OF AUTHOR: Department of Biochemistry and Molecular Biology, Thomas Jefferson Medical College, Philadelphia, PA 19107. SOURCE (BIBLIOGRAPHIC CITATION): Hum-Mol-Genet. 1994 Feb; 3(2): 247-52 INTERNATIONAL STANDARD SERIAL NUMBER: 0964-6906 PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: Forty-nine individuals have been identified with deletions or translocations involving the short arm of chromosome 5. While most display the classical phenotype of the cri-du-chat syndrome, several of the patients do not have the syndrome or have only a subset of the clinical features. Somatic cell hybrids containing the deleted chromosome 5 were derived from each patient. Each somatic cell hybrid was analyzed at the DNA level using 136 chromosome 5p-specific DNA fragments. It was possible to unambiguously order most of the chromosomal breakpoints present in the somatic cell hybrids based on the hybridization patterns of Southern blots. Further comparisons between the deletions present in the patients and their clinical features identified several chromosomal regions that were involved in specific clinical features. A critical chromosomal region involved the high-pitched cry mapped to 5p15.3, while the chromosomal region involved in the remaining features of the c ri -du-chat syndrome mapped to a small region within 5p15.2. Deletions that did not include these two chromosomal regions presented varying clinical phenotypes from severe mental retardation and microcephaly to a clinically normal phenotype. These results demonstrate the need for careful characterization of a 5p deletion in prenatal cases before clinical predictions are made. MINOR MESH HEADINGS: Base-Sequence; Chromosome-Mapping; Chromosomes,-Human,-Pair-5-ultrastructure; Hamsters-; Hybrid-Cells; Mental-Retardation-genetics; Microcephaly-genetics; Molecular-Sequence-Data; Phenotype-; Polymerase-Chain-Reaction MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-5; *Cri-du-Chat-Syndrome-genetics CHECKTAGS: Animal; Human; Support,-U.S.-Gov't,-P.H.S. PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: HG00236HGNHGRI; CA09678CANCI MEDLINE ACCESSION NUMBER: 94272461

UPDATE CODE: 9409

Record 18 of 22 in MEDLINE EXPRESS (R) 1991 - 1995

TITLE: Use of the laryngeal mask airway during thoracotomy in a pediatric patient with cri-du-chat syndrome [letter] AUTHOR(S): Castresana-MR; Stefansson-S; Cancel-AR; Hague-KJ SOURCE (BIBLIOGRAPHIC CITATION): Anesth-Analg. 1994 Apr; 78(4): 817 INTERNATIONAL STANDARD SERIAL NUMBER: 0003-2999 PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

MINOR MESH HEADINGS: Infant-

MAJOR MeSH HEADINGS: *Cri-du-Chat-Syndrome-complications; *Laryngeal-Masks; *Thoracotomy- CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: LETTER

MEDLINE ACCESSION NUMBER: 94182799

UPDATE CODE: 9406

SUBSET: AIM

Record 19 of 22 in MEDLINE EXPRESS (R) 1991 - 1995

TITLE: Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5. AUTHOR(S): Ono-K; Ohashi-Y; Nakano-H; Togashi-H; Kannari-Y; Isono-S ADDRESS OF AUTHOR: Second Department of Oral and Maxillo-facial Surgery, School of Dentistry, Niigata University, Japan. SOURCE (BIBLIOGRAPHIC CITATION): Jpn-J-Hum-Genet. 1993 Sep; 38(3): 319-28 INTERNATIONAL STANDARD SERIAL NUMBER: 0916-8478 PUBLICATION YEAR: 1993

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: JAPAN

ABSTRACT: A male infant with partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5 (46,XY,rec(5), dup q,inv(5)(p15.1q35.1)pat) is reported together with the oral findings. The phenotype was chiefly the cri-du-chat syndrome. Severe retardation of mental and motor development, microencephaly, cardiac malformation, crying and facial appearance unique to the cri-du-chat syndrome were observed. Perioral and intraoral findings included thin upper lip, down-turning corners of mouth, micrognathia, shallow palate, and cleft of soft palate. Anterior deciduous teeth were small and canine deciduous teeth were conic. The row of deciduous teeth showed a flat arch-like shape that was very wide but short in length. No abnormality was noted in the number of deciduous teeth or the timing of eruption. MINOR MESH HEADINGS: Adult-; Aneuploidy-; Child,-Preschool; Follow-Up-Studies; Infant-; Infant,-Newborn; Karyotyping-; Phenotype- MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-5; *Cri-du-Chat-Syndrome-genetics; *Inversion-Genetics; *Monosomy-; *Trisomy- CHECKTAGS: Case-Report; Female; Human; Male PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES MEDLINE ACCESSION NUMBER: 94083672

UPDATE CODE: 9403

Record 20 of 22 in MEDLINE EXPRESS (R) 1991 - 1995

TITLE: Inverted duplication of 8p: ten new patients and review of the literature. AUTHOR(S): Feldman-GL; Weiss-L; Phelan-MC; Schroer-RJ; Van-Dyke-DL ADDRESS OF AUTHOR: Medical Genetics and Birth Defects Center, Henry Ford Hospital, Detroit, Michigan 48202. SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1993 Sep 15; 47(4): 482-6 INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299 PUBLICATION YEAR: 1993

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: We evaluated 10 patients with an inverted tandem duplication of 8p. Inverted duplications of chromosome 8 have been reported infrequently, and no syndrome has been previously identified. All 8 patients on whom birth histories were available were hypotonic at birth, and had feeding difficulties in the neonatal period. All patients have significant developmental delay. Manifestations present in 5 or more patients were prominent forehead, high arched palate, large mouth with a thin upper lip, malformed and/or apparently low-set ears, broad nasal bridge, dental and skeletal abnormalities, and joint laxity or hyperextensibility. Variation in the phenotype may, in part, be explained by the different breakpoints. Recurrence risks of de novo rearrangements are probably very low, but for the recombinants the risk may be significant. The duplication appeared to be de novo in 6 patients (both parental karyotypes were normal); maternal karyotypes were normal in 2 patients, an d both parents of 1 patient were not available. One propositus had a monocentric recombinant of a paracentric inv(8) (p12p23.3) carried by the mother, and is one of only 6 known cases of duplication associated with a balanced paracentric inversion in a parent. The carrier parent was the mother in 5 of those 6 cases. Each case involved a different chromosome, and each probably was created by an unusual meiotic recombination event. Inverted duplication 8p is one of the most common duplications observed in our laboratories, and ranks in frequency with the classical deletions, such as Wolf-Hirschhorn and cri-du-chat syndromes and duplication or secondary trisomy 15q1.(ABSTRACT TRUNCATED AT 250 WORDS) MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Chromosome-Aberrations; Chromosome-Banding; Infant-; Karyotyping- MAJOR MeSH HEADINGS: *Chromosome-Abnormalities-genetics; *Chromosomes,-Human,-Pair-8 CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL MEDLINE ACCESSION NUMBER: 94078990

UPDATE CODE: 9403

Record 21 of 22 in MEDLINE EXPRESS (R) 1991 - 1995

TITLE: [Brain morphometry using MRI in Cri-du-Chat Syndrome. Report of seven cases with review of the literature] ORIGINAL TITLE: Morphometrie encephalique en irm dans la maladie du chat. A propos de sept patients, avec revue de la litterature. Association pour la recherche sur la sclerose en plaques. AUTHOR(S): Tamraz-J; Rethore-MO; Lejeune-J; Outin-C; Goepel-R; Stievenart-JL; Iba-Zizen-MT; Cabanis-EA ADDRESS OF AUTHOR: Service de Neuroradiologie et d'lRM, Hotel-Dieu de France, Universite Saint-Joseph de Beyrouth, Paris. SOURCE (BIBLIOGRAPHIC CITATION): Ann-Genet. 1993; 36(2): 75-87 INTERNATIONAL STANDARD SERIAL NUMBER: 0003-3995 PUBLICATION YEAR: 1993

LANGUAGE OF ARTICLE: FRENCH; NON-ENGLISH COUNTRY OF PUBLICATION: FRANCE

ABSTRACT: The authors present the results of a morphometric study of the brain of 7 patients with cat cry syndrome, explored with Magnetic Resonance Imaging (MRI). A method is proposed in order to facilitate the identification of the anatomical slices. A characteristic anomaly is observed as a marked atrophy of the brainstem predominating at the pontine level and associated with a small cerebellum, atrophic middle cerebellar peduncles and cerebellar white matter. This apparently systematized atrophy obvious in children, seems similar to the one observed in patients presenting a olivopontocerebellar atrophy, possibly correlating with disturbance of coordination and developmental delay in motility as observed in these patients. This does not implicate the same subjacent functional neuroanatomical pathways. MINOR MESH HEADINGS: Adolescence-; Adult-; Biometry-; Child-; Child,-Preschool; Cri-du-Chat-Syndrome-genetics; English-Abstract; Karyotyping-; Magnetic-Resonance-Imaging MAJOR MeSH HEADINGS: *Brain-pathology; *Cri-du-Chat-Syndrome-pathology CHECKTAGS: Case-Report; English-Abstract; Female; Human; Male PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES MEDLINE ACCESSION NUMBER: 94028730

UPDATE CODE: 9401

Record 22 of 22 in MEDLINE EXPRESS (R) 1991 - 1995

TITLE: Cerebellar vermis hypoplasia in a case of cri-du-chat syndrome. AUTHOR(S): De-Michele-G; Presta-M; Di-Salle-F; Serra-L; Mazzaccara-A; Della-Rocca-G; Ambrosio-G; Filla-A ADDRESS OF AUTHOR: Department of Neurology, School of Medicine, Federico II. University, Naples, Italy. SOURCE (BIBLIOGRAPHIC CITATION): Acta-Neurol-Napoli. 1993 Apr; 15(2): 92-6 INTERNATIONAL STANDARD SERIAL NUMBER: 0001-6276 PUBLICATION YEAR: 1993

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ITALY

ABSTRACT: We describe a 6-year-old child who presented the phenotype of cri-du-chat disease. The study of her caryotype confirmed an interstitial deletion of the short arm of chromosome 5. The neurological examination showed mental retardation, behavioral disturbances and features of cerebellar and cortico-spinal impairment. The MRI scan of the brain showed hypoplasia of the vermis associated with dysgenesia of the corpus callosum. This is the first report of vermian hypoplasia in cri-du-chat disease. We suggest that the most likely pathogenesis of this malformation is a midline dysraphia. MINOR MESH HEADINGS: Cerebellum-pathology; Child,-Preschool; Cri-du-Chat-Syndrome-diagnosis; Magnetic-Resonance-Imaging MAJOR MeSH HEADINGS: *Cerebellum-abnormalities; *Cri-du-Chat-Syndrome-complications CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 93318672

UPDATE CODE: 9310


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