De novo (15;21) unbalanced translocation of paternal origin in a girl with Prader-Willi syndrome

We describe a 3-month-old girl with Prader-Willi syndrome and a de novo unbalanced karyotype 45,XX,t(15;21)(q13;q22.3). This rearrangement, resulting in monosomy for the pericentromeric region of chromosome 15 and a virtual monosomy for the 21q distal band, had a paternal origin as demonstrated by Q...

Full description

Saved in:

Bibliographic Details
Published in:	American journal of medical genetics Vol. 37; no. 1; p. 62
Main Authors:	Cuoco, C, Bicocchi, M P, Granata, D, Mezzano, P, Serra, G
Format:	Journal Article
Language:	English
Published:	United States 01-09-1990
Subjects:	Child, Preschool Chromosome Banding Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 21 Female Humans Prader-Willi Syndrome - genetics Translocation, Genetic
Online Access:	Get more information
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	We describe a 3-month-old girl with Prader-Willi syndrome and a de novo unbalanced karyotype 45,XX,t(15;21)(q13;q22.3). This rearrangement, resulting in monosomy for the pericentromeric region of chromosome 15 and a virtual monosomy for the 21q distal band, had a paternal origin as demonstrated by Q and NOR staining.
ISSN:	0148-7299
DOI:	10.1002/ajmg.1320370115