Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature

C Léonard; J L Huret; M C Imbert; Y Lebouc; J Selva; A M Boulley

doi:10.1002/ajmg.1320430324

Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature

Am J Med Genet. 1992 Jun 1;43(3):621-5. doi: 10.1002/ajmg.1320430324.

Authors

C Léonard¹, J L Huret, M C Imbert, Y Lebouc, J Selva, A M Boulley

Affiliation

¹ Laboratoire de Cytogénétique, CHU Bicêtre, Paris, France.

PMID: 1605261
DOI: 10.1002/ajmg.1320430324

Abstract

We report on a case of dup(16p) and review previous cases. The triplicated chromosome region leading to this specific syndrome lies in 16p13.1 p13.3. Most of the cases are inherited and the mode of segregation was found to be 3:1 in half of the cases, but these observations might be due to biases. The other chromosomes involved in the translocations as well as the breakpoints in these chromosomes do not appear to be random.

Publication types

Case Reports
Review

MeSH terms

Abnormalities, Multiple / genetics
Chromosomes, Human, Pair 16*
Chromosomes, Human, Pair 21
Female
Humans
Infant, Newborn
Translocation, Genetic / genetics*
Trisomy*