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PMID: 136225 Published · ppublish fre Case Reports English Abstract Journal Article

[Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)].

Trisomies partielles du chromosome 21 par translocation maternelle t(15;21) (q26; q21

Annales de genetique ·Vol. 19 ·No. 3 ·1976-09-00 ·Pages 187-90

Raoul O, Carpentier S, Dutrillaux B, Mallet R, Lejeune J

Abstract

A balanced reciprocal translocation, t(15;21) (q262;q21) was observed in the mother and maternal grandfather of two patients. The propositus, who received the abnormal chromosome 15 from his mother, is trisomic for the distal part of chromosome 21, and his phenotype is that of classical trisomy 21. His sister, who is trisomic for the proximal part of 21q, is slightly retarded but developmentally normal otherwise.

MeSH Terms
Child, Preschool Chromosome Aberrations Chromosomes, Human, 13-15 Chromosomes, Human, 21-22 and Y Down Syndrome/genetics Humans Infant Infant, Newborn Male Translocation, Genetic Trisomy
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Raoul O
Carpentier S
Dutrillaux B
Mallet R
Lejeune J
Article Info
Journal
Annales de genetique
Abbr.
Ann Genet
ISSN
0003-3995
Published
1976-09-00
Pages
187-90
Language
fre
Region
Netherlands
NLM ID
0370562
Subset
IM
External Links
PubMed source
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