Article
[Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2012
Zhu Chun-jiang, Huang Zhi-yun, Wu Wei-qing, Zhao Qin, Jiang Hai-yan, Xie Jian-sheng
Abstract excerpt
OBJECTIVE: To confirm the diagnosis of a Wolf-Hirschhorn syndrome by family study using both cytogenetic and molecular genetic techniques. METHOD: G-band karyotyping was performed for all the 6 members in the family. Multiplex ligation-dependent probe amplification (MLPA) was used to detect the chromosome abnormality for the proband, his father and brother. Microarray comparative genomic hybridization (Array-CGH)...
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