PMID- 32034736
OWN - NLM
STAT- MEDLINE
DCOM- 20200305
LR  - 20200305
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 37
IP  - 2
DP  - 2020 Feb 10
TI  - [Genetic analysis of a child with Sotos syndrome].
PG  - 127-130
LID - 10.3760/cma.j.issn.1003-9406.2020.02.006 [doi]
AB  - 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.
FAU - Luo, Yuqin
AU  - Luo Y
AD  - Department of Reproductive Genetics, Women's Hospital, Zhejiang University School 
      of Medicine, Hangzhou, Zhejiang 310006, China. dongmy@zju.edu.cn.
FAU - Sun, Yixi
AU  - Sun Y
FAU - Qian, Yeqing
AU  - Qian Y
FAU - Shen, Min
AU  - Shen M
FAU - Wang, Liya
AU  - Wang L
FAU - Jin, Fan
AU  - Jin F
FAU - Dong, Minyue
AU  - Dong M
LA  - chi
PT  - Case Reports
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Child
MH  - Chromosome Banding
MH  - Female
MH  - Genetic Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Polymorphism, Single Nucleotide
MH  - *Sotos Syndrome/genetics
MH  - Translocation, Genetic
EDAT- 2020/02/09 06:00
MHDA- 2020/03/07 06:00
CRDT- 2020/02/09 06:00
PHST- 2020/02/09 06:00 [entrez]
PHST- 2020/02/09 06:00 [pubmed]
PHST- 2020/03/07 06:00 [medline]
AID - 940637026 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2020.02.006 [doi]
PST - ppublish
SO  - 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.