✦ LIBER ✦

Supernumerary marker chromosomes 5: Confirmation of a critical region and resultant phenotype

✍ Scribed by D'Amato Sizonenko, Loredana ;Ng, Daniel ;Oei, Paul ;Winship, Ingrid

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 242 KB
Volume: 111
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.10459

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

A critical region exists at 5p13 for the phenotype associated with duplication 5p. Two unrelated Polynesian children are reported with supernumerary marker chromosomes (SMCs) 5. This brings to seven the total of reported SMCs derived from chromosome 5. The phenotype is clear, and the level of mosaicism of the marker chromosomes is contributory to the clinical severity. © 2002 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

Phenotypic spectrum of 20 novel patients

Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature

✍ Tjitske Kleefstra; Nicole de Leeuw; Roy Wolf; Willy M. Nillesen; Gaby Schobers; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 234 KB

The 10q24-linked split hand/split foot s

The 10q24-linked split hand/split foot syndrome (SHFM3): Narrowing of the critical region and confirmation of the clinical phenotype

✍ Roscioli, Tony ;Taylor, Peter J. ;Bohlken, Andrew ;Donald, Jennifer A. ;Masel, J 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB 👁 1 views

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 👁 2 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