Prenatal Genetic Testing for a Microdeletion at Chromosome 14q32.2 Imprinted Region Leading to UPD(14) pat-like Phenotype

被引：4
|
作者：
Sasaki, Aiko [1 ]
Sumie, Masahiro [1 ]
Wada, Seiji [1 ]
Kosaki, Rika [2 ]
Kurosawa, Kenji [3 ]
Fukami, Maki [4 ]
Sago, Haruhiko [1 ]
Ogata, Tsutomu [5 ]
Kagami, Masayo [4 ]
机构：
[1] Natl Ctr Child Hlth & Dev, Dept Maternal Fetal & Neonatal Med, Tokyo, Japan
[2] Natl Ctr Child Hlth & Dev, Div Med Genet, Tokyo, Japan
[3] Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan
[4] Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo 1578535, Japan
[5] Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka 4313192, Japan
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2014年 / 164卷 / 01期
关键词：
PATERNAL UNIPARENTAL DISOMY;
D O I：
10.1002/ajmg.a.36185
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：264 / 266
页数：3
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