A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter-Reference-Cited by-同舟云学术

A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter

Published:2013-07-04 Issue:8 Volume:161 Page:1904-1909
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Fujita Atsushi¹,Suzumura Hiroshi²,Nakashima Mitsuko¹,Tsurusaki Yoshinori¹,Saitsu Hirotomo¹,Harada Naoki³,Matsumoto Naomichi¹,Miyake Noriko¹

Affiliation:

1. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Yokohama; Japan

2. Department of Pediatrics; Dokkyo Medical University; Tochigi; Japan

3. Cytogenetic Testing Group, Molecular Genetic Research and Analysis Department; Clinical Development Service Center, Mitsubishi Chemical Medience Corporation; Tokyo; Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36026/fullpdf

Reference18 articles.

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3. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements;Engel;Eur J Hum Genet,2006

4. Distinct dysmorphic syndrome in a child with inverted distal 5q duplication;Fryns;Ann Genet,1987

5. Cytogenetic contribution to uniparental disomy (UPD);Liehr;Mol Cytogenet,2010

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