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.
Estudio Colaborativo Español de Malformaciones Congénitas, Hospital Universitario San Carlos, Facultad de Medicina, Universidad Complutense de Madrid, Spain.
M
M
Urioste
I
I
Pinel
J L
JL
Gomar
C
C
Skinner
M L
ML
Martinez-Frias
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