𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient

✍ Scribed by Juyal, Ramesh C. ;Finucane, Brenda ;Shaffer, Lisa G. ;Lupski, James R. ;Greenberg, Frank ;Scott, Charles I. ;Baldini, Antonio ;Patel, Pragna I.

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
145 KB
Volume
59
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A dup(17)(p11.2p11.2) detected by fluore
A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome
✍ Balarin, Marly Aparecida Spadotto; Lopes, Vera L�cia Gil da Silva; Varella-Garci 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 1 views

We describe a de novo dup 17p11 in a boy with Alport syndrome, mild mental retardation, and minor anomalies. Combining classical and molecular cytogenetics analyses, the karyotype was defined as 46,XY.ish dup (17)(p11.2p11.2)(D17S29++,D17S379+). Alport syndrome is associated with mutations in the ty