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, cilt.23, sa.4, ss.336-9, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 4
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1002/pd.592
  • Dergi Adı: Prenatal diagnosis
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.336-9
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.