Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype-Reference-Cited by-同舟云学术

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

Published:2008-07-23 Issue:12 Volume:16 Page:1443-1449
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bonaglia Maria Clara,Ciccone Roberto,Gimelli Giorgio,Gimelli Stefania,Marelli Susan,Verheij Joke,Giorda Roberto,Grasso Rita,Borgatti Renato,Pagone Filomena,Rodrìguez Laura,Martinez-Frias Maria-Luisa,van Ravenswaaij Conny,Zuffardi Orsetta

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2008119.pdf

Reference23 articles.

1. Turleau C, Demay G, Cabanis MO, Lenoir G, de Grouchy J : 6q1 monosomy: a distinctive syndrome. Clin Genet 1988; 34: 38–42.

2. Villa A, Urioste M, Bofarull JM, Martinez-Frias ML : De novo interstitial deletion q16.2q21 on chromosome 6. Am J Med Genet 1995; 55: 379–383.

3. Stein CK, Stred SE, Thomson LL, Smith FC, Hoo JJ : Interstitial 6q deletion and Prader–Willi-like phenotype. Clin Genet 1996; 49: 306–310.

4. Gilhuis HJ, van Ravenswaaij CM, Hamel BJ, Gabreels FJ : Interstitial 6q deletion with a Prader–Willi-like phenotype:a new case and review of the literature. Eur J Paediatr Neurol 2000; 4: 39–43.

5. Faivre L, Cormier-Daire V, Lapierre JM et al: Deletion of the SIM1 gene (6q16.2) in a patient with a Prader–Willi-like phenotype. J Med Genet 2002; 39: 594–596.

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