Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype-Reference-Cited by-同舟云学术

Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype

Published:2013-05-17 Issue:7 Volume:161 Page:1695-1701
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Wang Jia-Chi¹,Vaccarello-Cruz Mary²,Ross Leslie¹,Owen Renius¹,Pratt Victoria M.³,Lightman Katherine²,Liu Yan¹,Hafezi Katayoun¹,Cherif Dhia¹,Sahoo Trilochan¹

Affiliation:

1. Cytogenetics Laboratory, Quest Diagnostics Nichols Institute; San Juan Capistrano, California

2. Pediatric Endocrine and Diabetes Specialists; Florida

3. Molecular Genetics, Quest Diagnostics Nichols Institute; Chantilly, Virginia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35939/fullpdf

Reference22 articles.

1. Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes;Berend;Am J Hum Genet,2000

2. Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116C/D box snoRNA cluster in Prader-Willi syndrome;Duker;Eur J Hum Genet,2010

3. Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome;Freeman;Am J Med Genet,1993

4. Prenatal diagnosis of the Prader-Willi syndrome through a 15;15 isochromosome and maternal disomy;Freund;Eur J Hum,2000

5. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria;Gunay-Aygun;Pediatrics,2001

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