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[Genetic diagnosis of a child with Smith-Magenis syndrome].

Gao, Yue; Wu, Dong; Huo, Xiaodong; Zhang, Mengting; Hou, Qiaofang; Wang, Hongdan; Liao, Shixiu.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 36(7): 724-726, 2019 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-31302921

OBJECTIVE:

To explore the molecular mechanism of a girl with developmental delay and intellectual disability.

METHODS:

Chromosomal karotypes of the child and her parents were analyzed with routine G-banding method. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) for chromosomal duplications/deletions.

RESULTS:

No karyotypic abnormality was detected in the child and her parents, while aCGH has identified a de novo 3.37 Mb deletion at 17p11.2 in the child.

CONCLUSION:

The child was diagnosed with Smith-Magenis syndrome, for which RAI1 may be the causative gene.
Selo DaSilva