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PMID: 1084125 Published · ppublish fre Case Reports English Abstract Journal Article

[Trisomy 10 p. A previously reported case explained by binding].

Trisomie 10p. Une observation ancienne précisée par marquage

Annales de genetique ·Vol. 19 ·No. 1 ·1976-03-00 ·Pages 61-4

Turleau C, Doussau de Bazignan M, Roubin M, de Grouchy J

Abstract

A previously reported male infant having died at 4 months, was considered trisomic Cp, his mother being carrier of balanced translocation t(Cp-;Bq +). Reexamination of the chromosome complement after R-banding showed the translocation to be t(4;10)(q35;p11). The propositus was therefore trisomic 10p. The essential clinical features were: a small birth weight and a short birth length; hypotonia; psychomotor retardation; dolichocephalia; a high and bulky forehead; narrow lips; large, lowset ears with a posterior rotation; a small chin; bone and joint anomalies; dextrocardia.

MeSH Terms
Abnormalities, Multiple/genetics Chromosomes, Human, 6-12 and X Dermatoglyphics Heart Defects, Congenital/genetics Humans Infant Infant, Newborn Karyotyping Kidney/abnormalities Male Psychomotor Disorders/genetics Syndrome Trisomy
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Turleau C
Doussau de Bazignan M
Roubin M
de Grouchy J
Article Info
Journal
Annales de genetique
Abbr.
Ann Genet
ISSN
0003-3995
Published
1976-03-00
Pages
61-4
Language
fre
Region
Netherlands
NLM ID
0370562
Subset
IM
External Links
PubMed source
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