PMID- 31922597
OWN - NLM
STAT- MEDLINE
DCOM- 20200113
LR  - 20200113
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 37
IP  - 1
DP  - 2020 Jan 10
TI  - [Identification of a 17q25.3 duplication in a Chinese patient with global 
      developmental delay and multiple congenital anomalies].
PG  - 52-56
LID - 10.3760/cma.j.issn.1003-9406.2020.01.014 [doi]
AB  - OBJECTIVE: To delineate the clinical features,inheritance pattern, and 
      genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication. 
      METHODS: Whole exome sequencing(WES), chromosomal microarray analysis (CMA), 
      chromosomal karyotyping and fluorescence in situ hybridization (FISH) were 
      employed for the analysis of the proband and his family members. RESULTS: A 5.7 
      Mb duplication at 17q25.3-->qter was identified by WES and CMA in the 4-year-old 
      boy with multiple congenital anomalies, which was classified as a clinically 
      pathogenic variant. This duplication was confirmed by FISH, and was inherited 
      from his unaffected mother who carried a balanced translocation. Further study 
      revealed that his grandmother also carried the balanced translocation but had 
      gestated three healthy children and had no abortion history. His uncle also 
      carried the balanced translocation, while his aunt was normal. CONCLUSION: Above 
      results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic 
      counseling was provided for the family. P4HB, ACTG1, BAIAP2 and TBCD genes may 
      underlie the clinical features for the 17q25.3 duplication.
FAU - Wang, Qingming
AU  - Wang Q
AD  - Dongguan Maternal and Child Health Care Hospital, Dongguan Institute of 
      Reproductive and Genetic Research, Dongguan, Guangdong 523120, China. 
      haimingyuan@sina.cn.
FAU - Li, Qiaoyi
AU  - Li Q
FAU - Xu, Qiuhong
AU  - Xu Q
FAU - Liu, Yanhui
AU  - Liu Y
FAU - Yuan, Haiming
AU  - Yuan H
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
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (TBCD protein, human)
SB  - IM
MH  - *Abnormalities, Multiple/genetics
MH  - Adult
MH  - Child, Preschool
MH  - China
MH  - *Chromosome Duplication
MH  - *Chromosomes, Human, Pair 17/genetics
MH  - *Developmental Disabilities/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Microtubule-Associated Proteins
MH  - Translocation, Genetic
EDAT- 2020/01/11 06:00
MHDA- 2020/01/14 06:00
CRDT- 2020/01/11 06:00
PHST- 2020/01/11 06:00 [entrez]
PHST- 2020/01/11 06:00 [pubmed]
PHST- 2020/01/14 06:00 [medline]
AID - 940637014 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2020.01.014 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jan 10;37(1):52-56. doi: 
      10.3760/cma.j.issn.1003-9406.2020.01.014.