A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family.


Karaman B., Wollnik B., Ermis H., Yuksel-Apak M., Basaran S.

Prenatal diagnosis, vol.23, no.4, pp.336-9, 2003 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 4
  • Publication Date: 2003
  • Doi Number: 10.1002/pd.592
  • Journal Name: Prenatal diagnosis
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.336-9
  • Istanbul University Affiliated: Yes

Abstract

The short-stature homeobox-containing gene (SHOX) on chromosome Xp22.3 was recently identified as an important determinant of the stature phenotype. Deletions of the SHOX gene, some of them due to structural chromosome abnormalities, have been described in patients with idiopathic short stature and Leri-Weill syndrome. Additionally, haploinsufficiency of SHOX is a main cause for short stature seen in patients with Turner syndrome.