Diploid/tetraploid mosaicism in a stillborn infant with prune belly anomaly.
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.
Urioste
M
M
Estudio Colaborativo Español de Malformaciones Congénitas, Hospital Universitario San Carlos, Facultad de Medicina, Universidad Complutense de Madrid, Spain.
Pinel
I
I
Gomar
J L
JL
Skinner
C
C
Martinez-Frias
M L
ML
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005313:Fetal Death / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D008297:Male; D009030:Mosaicism; D011123:Polyploidy; D011535:Prune Belly Syndrome / Q000235:genetics*; D014564:Urogenital Abnormalities