Article
[One case of 2q37 deletion syndrome: clinical and genetic diagnosis].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Dec 2013
Geng Qian, Xie Jian-sheng, Wu Wei-qing, Luo Fu-wei, Chen Wu-bin
Abstract excerpt
OBJECTIVE: To diagnose a new born baby with 2q37 deletion syndrome by comprehensive use of cytogenetic and molecular techniques and to investigate the phenotype characteristics and applicability of array-comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) for detection of this syndrome. METHOD: Following conventional chromosome preparation, G banded...
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