当前位置： SCI文献检索 > CHINESE MEDICAL JOURNAL期刊下所有文献 > Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization.

Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization.

Abstract：

BACKGROUND:Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (array CGH). METHODS:Clinical information was collected from ten patients with WHS. Genomic DNA was extracted from the peripheral blood of the patients. The deletions were analyzed by MLPA and array CGH. RESULTS:All patients exhibited the core clinical symptoms of WHS, including severe growth delay, a Greek warrior helmet facial appearance, differing degrees of intellectual disability, and epilepsy or electroencephalogram anomalies. The 4p deletions ranged from 2.62 Mb to 17.25 Mb in size and included LETM1, WHSC1, and FGFR3. CONCLUSIONS:The combined use of MLPA and array CGH is an effective and specific means to diagnose WHS and allows for the precise identification of the breakpoints and sizes of deletions. The deletion of genes in the WHS candidate region is closely correlated with the core WHS phenotype.

journal_name

Chin Med J (Engl)

journal_title

Chinese medical journal

authors

Yang WX,Pan H,Li L,Wu HR,Wang ST,Bao XH,Jiang YW,Qi Y

doi

10.4103/0366-6999.177996

subject

Has Abstract

pub_date

2016-03-20 00:00:00

pages

672-8

issue

6

eissn

0366-6999

issn

2542-5641

pii

ChinMedJ_2016_129_6_672_177996

journal_volume

129

pub_type

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