✦ LIBER ✦

Pure direct duplication (12)(q24.1 → q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies

✍ Scribed by Martine Doco-Fenzy; Pierre Mauran; Jean Marie Lebrun; Sylvie Bock; Nathalie Bednarek; Stéphanie Struski; Juliette Albuisson; Azarnouche Ardalan; Nathalie Collot; Anouck Schneider; Florence Dastot-Le Moal; Dominique Gaillard; Michel Goossens

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 301 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31057

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification and characterization of a

Identification and characterization of a complex pure mosaic of small supernumerary marker chromosomes involving 11p11.12 → q12.1 and 19p12 → q12 regions in a child featuring multiple congenital anomalies

✍ Xiang Fei; Manlong Qi; Yanyan Zhao; Jesse Li-Ling 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 286 KB 👁 1 views

## Abstract Unstable, gene‐rich pericentric regions have been associated with various structural aberrations including small supernumerary marker chromosomes (sSMCs). We hereby report on a complex pure mosaic sSMCs derived from chromosomes 11 and 19 in a child featuring multiple congenital anomalie