Tags

Type your tag names separated by a space and hit enter

The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.
Hum Genet. 1978 Nov 16; 44(3):227-75.HG

Abstract

Data for 331 cri du chat cases, including 34 Danish probands, are reviewed. The incidence nad the prevalence among the mentally retarded population amounted to 1/45,000 and 1.5/1000, respectively. No striking association with prenatal events, parental ages, or birth order could be demonstrated. There was a significant excess of females. Parental translocations were present in slightly more than 10% of the families, while more rare cytogenetic aberrations (mosaicism, rings, and de novo translocations) accounted for less than 10% of all cases. The phenotypically relevant segment has been narrowed down to the midportion of the 5p15 band. Clinical, radiologic, and dermatoglyphic features are summarized and discussed, with special attention to the abnormal cry, which persists in many older probands, and to developmental abnormalities. No obvious correlation could be detected between clinical features and the localization of the deletion. No marker locus has yet been assigned to the short arm of chromosome 5. Treatment and prevention are briefly discussed.

Authors

Niebuhr E
No affiliation info available

MeSH

AdolescentAdultBirth OrderChildChild, PreschoolChromosome DeletionChromosomes, Human, 4-5Cri-du-Chat SyndromeCryingDermatoglyphicsDystoniaFemaleGenitaliaHumansInfantInfant, NewbornIntellectual DisabilityKaryotypingMaleMaternal AgeMicrocephalyMicrognathismPaternal AgePhenotypePrenatal DiagnosisSex RatioTranslocation, Genetic

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

365706

Citation

Niebuhr, E. "The Cri Du Chat Syndrome: Epidemiology, Cytogenetics, and Clinical Features." Human Genetics, vol. 44, no. 3, 1978, pp. 227-75.
Niebuhr E. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet. 1978;44(3):227-75.
Niebuhr, E. (1978). The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Human Genetics, 44(3), 227-75.
Niebuhr E. The Cri Du Chat Syndrome: Epidemiology, Cytogenetics, and Clinical Features. Hum Genet. 1978 Nov 16;44(3):227-75. PubMed PMID: 365706.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. A1 - Niebuhr,E, PY - 1978/11/16/pubmed PY - 1978/11/16/medline PY - 1978/11/16/entrez SP - 227 EP - 75 JF - Human genetics JO - Hum Genet VL - 44 IS - 3 N2 - Data for 331 cri du chat cases, including 34 Danish probands, are reviewed. The incidence nad the prevalence among the mentally retarded population amounted to 1/45,000 and 1.5/1000, respectively. No striking association with prenatal events, parental ages, or birth order could be demonstrated. There was a significant excess of females. Parental translocations were present in slightly more than 10% of the families, while more rare cytogenetic aberrations (mosaicism, rings, and de novo translocations) accounted for less than 10% of all cases. The phenotypically relevant segment has been narrowed down to the midportion of the 5p15 band. Clinical, radiologic, and dermatoglyphic features are summarized and discussed, with special attention to the abnormal cry, which persists in many older probands, and to developmental abnormalities. No obvious correlation could be detected between clinical features and the localization of the deletion. No marker locus has yet been assigned to the short arm of chromosome 5. Treatment and prevention are briefly discussed. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/365706/The_Cri_du_Chat_syndrome:_epidemiology_cytogenetics_and_clinical_features_ L2 - https://www.diseaseinfosearch.org/result/2007 DB - PRIME DP - Unbound Medicine ER -