Deletion (13)(q22) with multiple congenital anomalies, hydranencephaly and penoscrotal transposition.
We report on a neonate with multiple congenital anomalies and hydranencephaly. His chromosome constitution was 46,XY, del(13)(q22). This case further delineates the phenotypic variation of deletion distal 13q- syndrome.
Department of Medical Genetics, Rambam Medical Center, Haifa, Israel.
R
R
Gershoni-Baruch
D
D
Zekaria
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D006801:Humans; D006832:Hydranencephaly / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010413:Penis / Q000002:abnormalities*; D012611:Scrotum / Q000002:abnormalities*