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PMID: 1003171 Published · ppublish English Case Reports Journal Article

Cri du chat syndrome and translocation t(5p--;18p+).

Journal de genetique humaine ·Vol. 24 ·No. 3 ·1976-09-00 ·Pages 173-82

Abrisqueta JA, Perez A, Aller V, Del Mazo J, Goday C, Martin MA, De Torres ML

Abstract

Two new cases of "cri du chat" syndrome are reported in sisters aged 2 years and one month, respectively. These cases allowed us to detect a translocation t(5p--;18p+) in the mother and to study the familial segregation of this structural chromosome anomaly. At the same time, results from the dermatoglyphic analysis of the propositi as well as those of the carriers of the translocation are also reported.

MeSH Terms
Child, Preschool Chromosome Aberrations Chromosomes, Human, 16-18 Chromosomes, Human, 4-5 Cri-du-Chat Syndrome/genetics Dermatoglyphics Female Humans Infant, Newborn Pedigree Translocation, Genetic
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Abrisqueta J A
Perez A
Aller V
Del Mazo J
Goday C
Martin M A
De Torres M L
Article Info
Journal
Journal de genetique humaine
Abbr.
J Genet Hum
ISSN
0021-7743
Published
1976-09-00
Pages
173-82
Language
English
Region
Switzerland
NLM ID
2983308R
Subset
IM
External Links
PubMed source
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