PMID- 31703141
OWN - NLM
STAT- MEDLINE
DCOM- 20191120
LR  - 20200108
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 36
IP  - 11
DP  - 2019 Nov 10
TI  - [Identification of cryptic structural chromosomal aberrations in parents through 
      detection of copy number variations in miscarriage tissues].
PG  - 1123-1126
LID - 10.3760/cma.j.issn.1003-9406.2019.11.017 [doi]
AB  - OBJECTIVE: To explore the genetic cause for abnormal pregnancies through 
      detecting chromosomal copy number variations (CNVs) in abortic tissues by next 
      generation sequencing (NGS). METHODS: NGS technique was used to detect CNVs in 
      abortion tissues. Parental chromosomal karyotypes were predicted based on the 
      results. The aberrant chromosomal segments of the parents were accurately mapped 
      by G-banding karyotyping analysis and fluorescence in situ hybridization (FISH). 
      RESULTS: In addition to numerical chromosomal aberrations, 12 
      microdeletion/microduplications were detected by NGS. For 8 families where both 
      parents accepted chromosomal karyotyping, 4 carriers of chromosomal abnormalities 
      were identified. One marker chromosome was missed by karyotyping analysis, and a 
      mother was confirmed to carry a cryptic balanced translocation by FISH. 
      CONCLUSION: NGS can facilitate detection of cryptic chromosomal translocations in 
      couples with repeated pregnancy failure and is of great value for detecting 
      abnormal CNVs for its high sensitivity.
FAU - Zhao, Yanhui
AU  - Zhao Y
AD  - Shenyang Women and Children's Hospital, Shenyang, Liaoning 110011, China. 
      panghong_yc@126.com.
FAU - Pang, Hong
AU  - Pang H
FAU - Guo, Shuaishuai
AU  - Guo S
FAU - Cheng, Zhaoxia
AU  - Cheng Z
FAU - Sun, Jianhua
AU  - Sun J
FAU - Lan, Chong
AU  - Lan C
FAU - Zhao, Yan
AU  - Zhao Y
FAU - Sun, Ru
AU  - Sun R
FAU - Zhang, Meng
AU  - Zhang M
FAU - Fan, Tingting
AU  - Fan T
FAU - Yan, Xiaojie
AU  - Yan X
LA  - chi
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  - Abortion, Spontaneous/*genetics
MH  - *Chromosome Aberrations
MH  - *DNA Copy Number Variations
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Parents
MH  - Pregnancy
EDAT- 2019/11/09 06:00
MHDA- 2019/11/21 06:00
CRDT- 2019/11/09 06:00
PHST- 2019/11/09 06:00 [entrez]
PHST- 2019/11/09 06:00 [pubmed]
PHST- 2019/11/21 06:00 [medline]
AID - 940636239 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2019.11.017 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Nov 10;36(11):1123-1126. doi: 
      10.3760/cma.j.issn.1003-9406.2019.11.017.