✦ LIBER ✦

A ring X chromosome, 46,Y,r(X)(p22.33q28), as a cause of extreme short stature in a male

✍ Scribed by Ogata, Tsutomu ;Matsuo, Nobutake ;Shimizu, Nobuyoshi

Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 444 KB
Volume: 35
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320350219

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Ring Y chromosome: 45,X/46,X,r(Y) chromo

Ring Y chromosome: 45,X/46,X,r(Y) chromosome mosaicism in a phenotypically normal male with azoospermia

✍ T. Maeda; M. Ohno; A. Ishibashi; M. Samejima; K. Sasaki 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 675 KB

Molecular breakpoint analysis and releva

Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype

✍ Kotzot, Dieter ;Dufke, Andreas ;Tzschach, Andreas ;Baeckert-Sifeddine, Iris-Tatj 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 152 KB 👁 1 views

Deletion of the distal short arm of the

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

✍ Ballabio, A. ;Zollo, M. ;Carrozzo, R. ;Caiulo, A. ;Zuffardi, O. ;Cascioli, C. F. 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 397 KB 👁 2 views

## 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