✦ LIBER ✦

Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency

✍ Scribed by Ballabio, A. ;Zollo, M. ;Carrozzo, R. ;Caiulo, A. ;Zuffardi, O. ;Cascioli, C. F. ;Viggiano, D. ;Strisciuglio, P.

Publisher: John Wiley and Sons
Year: 1991
Tongue: English
Weight: 397 KB
Volume: 41
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320410210

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

We observed a boy with short stature, chondrodysplasia punctata, ichthyosis, and a terminal deletion of Xp. Steroid sulfatase deficiency was demonstrated in the patient's fibroblasts. Molecular analysis showed a deletion of the entire steroid sulfatase gene. This case represents another example of a contiguous gene syndrome in which the co‐deletion of adjacent genes on a chromosome is responsible for a complex phenotype.

📜 SIMILAR VOLUMES

Contiguous gene syndrome due to a matern

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy–Walker malformation

✍ M.A.M. van Steensel; M. Vreeburg; J. Engelen; S. Ghesquiere; A.P.A. Stegmann; J. 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 159 KB 👁 2 views