Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44

Published:2011-09-21 Issue:2 Volume:20 Page:176-179
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Nagamani Sandesh C Sreenath,Erez Ayelet,Bay Carolyn,Pettigrew Anjana,Lalani Seema R,Herman Kristin,Graham Brett H,Nowaczyk Malgorzata JM,Proud Monica,Craigen William J,Hopkins Bobbi,Kozel Beth,Plunkett Katie,Hixson Patricia,Stankiewicz Pawel,Patel Ankita,Cheung Sau Wai

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011171.pdf

Reference21 articles.

1. van Bon BWM, Koolen DA, Borgatti R et al: Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet 2008; 45: 346.

2. van Bever Y, Rooms L, Laridon A et al: Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype. Am J Med Genet A 2005; 135: 91–95.

3. Merritt II JL, Zou Y, Jalal SM, Michels VV : Delineation of the cryptic 1qter deletion phenotype. Am J Med Genet A 2007; 143: 599–603.

4. Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M : Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A 2004; 128A: 352–363.

5. Hill AD, Chang BS, Hill RS et al: A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. Am J Med Genet A 2007; 143A: 1692–1698.

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