Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34

O. Bartsch, U. Kuhnle, Loo Ling Wu, E. Schwinger, G. K. Hinkel

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

Two unrelated patients with small distal deletions of the long arm of chromosome 13 are described, with shawl scrotum and penoscrotal transposition, penoscrotal hypospadias, a reduced perineum, and anal atresia. The patients have small deletions of 13(q32.2qter) and 13(q32q34), respectively. This report and the literature present evidence for one or possibly more gene(s) within region 13q32.2q34 which regulate the development of the ano-genital structures. The clinical spectrum includes bifid or shawl scrotum, hypospadias, biseptate uterus, malplaced and imperforate anus, and common cloaca.

Original languageEnglish
Pages (from-to)218-221
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume65
Issue number3
DOIs
Publication statusPublished - 28 Oct 1996

Fingerprint

Imperforate Anus
Hypospadias
Scrotum
Cloaca
Perineum
Chromosomes, Human, Pair 13
Uterus
Genes
Penoscrotal transposition

Keywords

  • anal atresia
  • chromosomal bands 13q32 and 13q33 and 13q34
  • chromosome 13
  • hypospadias
  • partial monosomy 13q

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

Cite this

Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34. / Bartsch, O.; Kuhnle, U.; Wu, Loo Ling; Schwinger, E.; Hinkel, G. K.

In: American Journal of Medical Genetics, Vol. 65, No. 3, 28.10.1996, p. 218-221.

Research output: Contribution to journalArticle

Bartsch, O. ; Kuhnle, U. ; Wu, Loo Ling ; Schwinger, E. ; Hinkel, G. K. / Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34. In: American Journal of Medical Genetics. 1996 ; Vol. 65, No. 3. pp. 218-221.
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