[Genetic analysis of a child with Sotos syndrome].
作者信息
Luo Yuqin, Sun Yixi, Qian Yeqing, Shen Min, Wang Liya, Jin Fan, Dong Minyue
机构信息
Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):127-130. doi: 10.3760/cma.j.issn.1003-9406.2020.02.006.
OBJECTIVE
To explore the genetic basis for a child with mentally retardation.
METHODS
G-banding karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were performed for the child. Karyotyping and FISH were also carried out for her parents.
RESULTS
SNP-array has detected a 5077 kb microdeletion at 5q35.2q35.3 and a 4964 kb microduplication at 7q36.2q36.3 in the child. The results were confirmed by FISH. Based on above results, the father was subsequently found to carry a cryptic t(5;7) (q35.2; q36.2) translocation. The child was verified to have inherited a der(5) t(5;7)(q35.2; q36.2) from her father.
CONCLUSION
The 5077 kb microdeletion at 5q35.2q35.3 may have predisposed to the Sotos syndrome in the child. SNP-array combined with G-banding karyotyping and FISH can help to detect cryptic chromosomal translocations among patients.
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