PMID- 28777859
OWN - NLM
STAT- MEDLINE
DCOM- 20171205
LR  - 20171205
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 34
IP  - 4
DP  - 2017 Aug 10
TI  - [Delineating a case with a complex karyotype by using combined genetic 
      techniques].
PG  - 559-562
LID - 10.3760/cma.j.issn.1003-9406.2017.04.020 [doi]
AB  - OBJECTIVE: To explore the pathogenesis of a child with growth retardation, liver 
      damage and congenital heart disease. METHODS: G-banded chromosomal karyotyping, 
      high-throughput next-generation sequencing (HT-NGS)and fluorescence in situ 
      hybridization(FISH) were used to characterize the structural chromosomal 
      aberration. RESULTS: The child was found to have a karyotype of 46, XX, t(1;2) 
      (q25;q21), t(7;20) (q21;p13). HT-NGS has detected a microdeletion at 2q21.3 and 
      7q21.11, respectively, which were verified by FISH. CONCLUSION: Combined 
      cytogenetic and molecular analysis can detect chromosome micrdeletions more 
      precisely. The abnormalities of the child may be attributed to heterozygous 
      deletion of ZEB2, ABCB4 and SEMA3A genes.
FAU - Han, Ning
AU  - Han N
AD  - Central Laboratory, Guangzhou Women and Children's Medical Center, Guangzhou, 
      Guangdong 510120, China. hanning8002@163.com.
FAU - Kuang, Lu
AU  - Kuang L
FAU - Zhu, Bing
AU  - Zhu B
FAU - Hua, Liang
AU  - Hua L
FAU - Li, Wanling
AU  - Li W
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  - Chromosome Aberrations
MH  - Chromosome Banding/methods
MH  - Female
MH  - Heart Defects, Congenital/*genetics
MH  - Humans
MH  - Infant
MH  - Intellectual Disability/*genetics
MH  - Karyotyping/methods
MH  - Liver Diseases/*genetics
EDAT- 2017/08/05 06:00
MHDA- 2017/12/06 06:00
CRDT- 2017/08/05 06:00
PHST- 2017/08/05 06:00 [entrez]
PHST- 2017/08/05 06:00 [pubmed]
PHST- 2017/12/06 06:00 [medline]
AID - 940634114 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.04.020 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Aug 10;34(4):559-562. doi: 
      10.3760/cma.j.issn.1003-9406.2017.04.020.