PMID- 32034748
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  - [Phenotypic and genetic analysis of a child with multiple malformations due to 
      10p13p15.3 duplication].
PG  - 170-174
LID - 10.3760/cma.j.issn.1003-9406.2020.02.018 [doi]
AB  - OBJECTIVE: To explore the basis for a child with multiple malformations and 
      correlate her genotype with phenotype. METHODS: The child was subjected to 
      G-banding chromosomal analysis first, and low-coverage massively parallel copy 
      number variation sequencing (CNV-seq) was used to define the aberrant region. The 
      results were verified by fluorescence in situ hybridization (FISH). RESULTS: The 
      child was found to have a karyotype of 46,XX,3pter+?. CNV-seq has identified a 
      13.5 Mb duplication at 10p13p15.3(60 466-13 556 655) and a 636 kb microdeletion 
      at 3p26.3 (60 064-695 821). Her karyotype was the refore specified as 46, XX, ish 
      der(3) t(3;10) (10p+,3pdim) by FISH. Both of her parents were normal, which 
      suggested an de novo origin of the above variant. CONCLUSION: The de novo 
      10p13p15.3 duplication probably underlies the mental retardation, development 
      delay, dysmorphism, and gastroesophageal reflux in the child. The CHL1 gene from 
      the 3p26.3 region may play an important role in the formation and function of the 
      brain, which may underlie the intellectual deficit in this child.
FAU - Xu, Xiaocha
AU  - Xu X
AD  - Department of Genetics and Metabolism, Children's Hospital of Zhejiang University 
      School of Medicine, Hangzhou, Zhejiang 310052, China. chsczx@zju.edu.cn.
FAU - Zhang, Ting
AU  - Zhang T
FAU - Shen, Yaping
AU  - Shen Y
FAU - Zheng, Jing
AU  - Zheng J
FAU - Yang, Rulai
AU  - Yang R
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  - *Abnormalities, Multiple/genetics
MH  - Child
MH  - Chromosome Banding
MH  - Chromosome Deletion
MH  - Chromosomes, Human
MH  - DNA Copy Number Variations
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Intellectual Disability
MH  - Phenotype
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 - 940637038 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2020.02.018 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):170-174. doi: 
      10.3760/cma.j.issn.1003-9406.2020.02.018.