Partial trisomy 20q due to paternal t(8;20) translocation. Case report and review of the literature

G Pierquin; C Herens; P Dodinval; J Frederic; I Weber; J Senterre; J P Fryns

doi:10.1111/j.1399-0004.1988.tb03466.x

Partial trisomy 20q due to paternal t(8;20) translocation. Case report and review of the literature

Clin Genet. 1988 May;33(5):386-9. doi: 10.1111/j.1399-0004.1988.tb03466.x.

Authors

G Pierquin¹, C Herens, P Dodinval, J Frederic, I Weber, J Senterre, J P Fryns

Affiliation

¹ Department of Human Genetics, University of Liege, Belgium.

PMID: 3288379
DOI: 10.1111/j.1399-0004.1988.tb03466.x

Abstract

In this report we present a malformed female newborn with partial trisomy 20q who was the unbalanced product of a paternal 8p/20q translocation (46,XY,t(8;20) (p23.1;q11].

Publication types

Case Reports
Review

MeSH terms

Abnormalities, Multiple / genetics*
Adult
Chromosome Aberrations / genetics*
Chromosome Disorders
Chromosomes, Human, Pair 20 / ultrastructure*
Chromosomes, Human, Pair 8 / ultrastructure*
Female
Humans
Infant, Newborn
Male
Translocation, Genetic*
Trisomy*