Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

Abstract Background Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypomethylation of the H19-differentially methylated regio...

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Bibliographic Details
Main Authors: Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami
Format: Article
Language:English
Published: BMC 2017-05-01
Series:Clinical Epigenetics
Subjects:
Silver-Russell syndrome
Pathogenic copy number variation
Array comparative genomic hybridization
Netchine-Harbison clinical scoring system
4p microdeletion syndrome
Mosaic trisomy 18
Online Access:http://link.springer.com/article/10.1186/s13148-017-0350-6

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http://link.springer.com/article/10.1186/s13148-017-0350-6

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