Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader–Willi like features and hypotonia-Reference-Cited by-同舟云学术

Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader–Willi like features and hypotonia

Published:2012-08 Issue:8-9 Volume:55 Page:461-465
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ben-Abdallah-Bouhjar Inesse,Hannachi Hanene,Labalme Audrey,Gmidène Abir,Mougou Soumaya,Soyah Najla,Gribaa Moez,Sanlaville Damien,Elghezal Hatem,Saad Ali

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference36 articles.

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3. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological Symptoms in males;Van Esch;Am. J. Hum. Genet.,2005

4. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports;Menten;J. Med. Genet.,2006

5. The causes and consequences of random and non-random X chromosome inactivation in humans;Brown;Clin. Genet.,2000

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2. The Spectrum of the Prader–Willi-like Pheno- and Genotype: A Review of the Literature;Endocrine Reviews;2021-08-30

3. Case of 15q26-qter deletion associated with a Prader-Willi phenotype;European Journal of Medical Genetics;2020-08

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