Deletion (13)(q22) with multiple congenital anomalies, hydranencephaly and penoscrotal transposition

Clin Dysmorphol. 1996 Oct;5(4):289-94.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Humans
  • Hydranencephaly / genetics*
  • Infant, Newborn
  • Karyotyping
  • Male
  • Penis / abnormalities*
  • Scrotum / abnormalities*