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PMID: 1081372 Published · ppublish English Case Reports Journal Article

An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15.

Annales de genetique ·Vol. 18 ·No. 2 ·1975-06-00 ·Pages 99-103

Cohen MM, Ornoy A, Rosenmann A, Kohn G

Abstract

A four year old girl with severe mental retardation and multiple congenital abnormalities manifested "partial trisomy 15". Her mother, pregnant at the time of examination, possessed a balanced translocation which, after banding techniques, was identified as t(4;15)(p16;q22). Amnio-centesis revealed the karyotype of the fetus to be identical to that of the proposita and a therapeutic abortion was performed. Prenatal investigation of a subsequent pregnancy revealed a normal male karyotype. Comparison of the proposita and aborted fetus of this family with the 5 reported other cases of "partial trisomy 15" does not allow for a precise recognizable clinical syndrome.

MeSH Terms
Abnormalities, Multiple/genetics Amniocentesis Child, Preschool Chromosome Aberrations Chromosome Disorders Chromosomes, Human, 13-15 Chromosomes, Human, 16-18 Chromosomes, Human, 21-22 and Y Female Growth Disorders/genetics Humans Intellectual Disability/genetics Karyotyping Microcephaly/genetics Pedigree Pregnancy Translocation, Genetic Trisomy
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Cohen M M
Ornoy A
Rosenmann A
Kohn G
Article Info
Journal
Annales de genetique
Abbr.
Ann Genet
ISSN
0003-3995
Published
1975-06-00
Pages
99-103
Language
English
Region
Netherlands
NLM ID
0370562
Subset
IM
External Links
PubMed source
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