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[Clinical phenotype and genetic analysis of MED13L syndrome].


ABSTRACT: A boy aged 4 years and 2 months was found to have delayed language and motor development, instability of gait, poor eye contact, stereotyped behavior, and seizure at the age of 3 years. Physical examination showed special facial features, including plagiocephaly, blepharoptosis, wide nasal bridge, down-turned mouth corners at both sides, and low-set ears. There were only two knuckles at the little finger of the left hand. The anteroposterior and lateral films of the spine showed scoliosis; echocardiography showed ventricular septal defect; the Gesell Developmental Scale showed delayed language development and moderate intellectual disability; there were no abnormalities in the karyotype; genome-wide SNP arrays found a duplication in 12q24.21 region with a size of 1.03 Mb in chromosome 12, while this was not seen in his parents. The boy was diagnosed with MED13L syndrome. Point mutation, deletion, and duplication in the MED13L gene can lead to MED13L syndrome. The patients with different genotypes may have different phenotypes. Genome-wide SNP arrays may help with the diagnosis of this disease.

SUBMITTER: Meng QJ 

PROVIDER: S-EPMC7389282 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature

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[Clinical phenotype and genetic analysis of MED13L syndrome].

Meng Qing-Jie QJ   He Xue-Lian XL   Xiao Han H   Xia Qian Q   Bi Bo B   Xiang Yun Y  

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 20171001 10


A boy aged 4 years and 2 months was found to have delayed language and motor development, instability of gait, poor eye contact, stereotyped behavior, and seizure at the age of 3 years. Physical examination showed special facial features, including plagiocephaly, blepharoptosis, wide nasal bridge, down-turned mouth corners at both sides, and low-set ears. There were only two knuckles at the little finger of the left hand. The anteroposterior and lateral films of the spine showed scoliosis; echoc  ...[more]

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