Diploid/tetraploid mosaicism in a stillborn infant with prune belly anomaly

M Urioste; I Pinel; J L Gomar; C Skinner; M L Martinez-Frias

Diploid/tetraploid mosaicism in a stillborn infant with prune belly anomaly

Ann Genet. 1990;33(1):49-51.

Authors

M Urioste¹, I Pinel, J L Gomar, C Skinner, M L Martinez-Frias

Affiliation

¹ Estudio Colaborativo Español de Malformaciones Congénitas, Hospital Universitario San Carlos, Facultad de Medicina, Universidad Complutense de Madrid, Spain.

PMID: 2195982

Abstract

We report a case of a stillborn infant that presented multiple birth defects and a diploid/tetraploid mosaicism in skin fibroblasts. Clinical and cytogenetical findings are discussed and compared with those presented in previously reported cases.

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Review

MeSH terms

Abnormalities, Multiple / genetics*
Chromosome Aberrations / genetics*
Chromosome Disorders
Fetal Death / genetics*
Humans
Infant, Newborn
Lung / abnormalities
Male
Mosaicism*
Polyploidy*
Prune Belly Syndrome / genetics*
Urogenital Abnormalities