✦ LIBER ✦

Interstitial deletion of 11 (P11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2)

✍ Scribed by Potocki, Lorraine; Shaffer, Lisa G.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 25 KB
Volume: 62
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960329)62:3<319::aid-ajmg22>3.0.co;2-m

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Gene for multiple exostoses (EXT2) maps

Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome

✍ Ligon, Azra H.; Potocki, Lorraine; Shaffer, Lisa G.; Stickens, Dominique; Evans, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 6 KB 👁 1 views

Somatic mosaicism of a greater than 1.7-

Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entireNF1 gene as verified by FISH: Further evidence for a contiguous gene syndrome in 17q11.2

✍ Streubel, Berthold; Latta, Elisabeth; Kehrer-Sawatzki, Hildegard; Hoffmann, Geor 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 1 views

We report on a third case with neurofibromatosis type 1 (NF1) due to mosaicism for a gross deletion in 17q11.2 covering the entire NF1 gene. The deletion was suspected in Giemsa banded chromosomes and was confirmed by fluorescence in situ hybridization using the cosmids CO919 from the 5 region, GO21