Chromosomal anomaly and malformation syndrome with abdominal polyorchidism.
We describe a neonate who presented with multiple severe malformations including polyorchidism. To our knowledge this is the second case reported with ipsilateral testes located intra-abdominally. Chromosomal studies in cases of polyorchidism have been reported previously only once and the patient exhibited a normal karyotype. Our patient had a chromosome 21 long arm deletion. Interestingly, a trisomy 21 patient has been reported with agonadism. We suggest that genes on chromosome 21 may have some role in gonadal development.
Shabtai
F
F
Gattegno Research Institute of Human Reproduction and Fetal Development, Hasharon Hospital, Golda Medical Center, Petah Tikva, Israel.
Schwartz
A
A
Hart
J
J
Halbrecht
I
I
Kimche
D
D
D000015:Abnormalities, Multiple; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002891:Chromosomes, Human, Pair 21; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013737:Testis / Q000002:abnormalities*