PMID- 29896752
OWN - NLM
STAT- MEDLINE
DCOM- 20181219
LR  - 20181219
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 35
IP  - 3
DP  - 2018 Jun 10
TI  - [Diagnosis of a case with recurrent pregnancy loss resulted from maternal 
      balanced translocation by chromosomal microarray analysis].
PG  - 443-447
LID - 10.3760/cma.j.issn.1003-9406.2018.03.032 [doi]
AB  - OBJECTIVE: To explore the genetic basis for a couple with recurrent pregnancy 
      loss by using single nucleotide polymorphism array (SNP array), chromosomal 
      karyotype analysis, and fluorescence in situ hybridization (FISH). METHODS: A SNP 
      array was used for analyzing sample derived from the abortic tissue. The couple 
      was analyzed with G-banded karyotyping and an Illumina Human CytoSNP-12 Beadchip 
      assay. Based on the results, specific probes were designed to verify the 
      chromosomal aberration by FISH. RESULTS: The SNP array showed a 16.6 Mb 
      duplication at 11q23.3-q25 and a 11 Mb deletion at 15q26.1-q26.3 in the abortic 
      tissue. Combined with high-resolution G-banding analysis, the karyotype of the 
      wife was verified to be 46,XX,t(11;15)(q24;q26.2). FISH analysis using probes for 
      11pter/11qter and 15qter confirmed that she has carried a balanced translocation, 
      while the fetus has carried a derivative chromosome 15 derived from the maternal 
      translocation. CONCLUSION: SNP array can facilitate detection of balanced 
      translocations which are difficult to be identified by conventional chromosomal 
      karyotyping. The method does not necessitate cell culture and can well suit 
      genetic analysis for couples with recurrent pregnancy loss.
FAU - Wang, Li
AU  - Wang L
AD  - Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou 
      University, Zhengzhou, Henan 450052, China. kongxd@263.net.
FAU - Bai, Nan
AU  - Bai N
FAU - Liu, Lina
AU  - Liu L
FAU - Zhang, Qiuyan
AU  - Zhang Q
FAU - Kong, Xiangdong
AU  - Kong X
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  - Abortion, Habitual/diagnosis/*genetics
MH  - Adult
MH  - Chromosome Aberrations
MH  - Chromosome Banding
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Oligonucleotide Array Sequence Analysis
MH  - Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - *Translocation, Genetic
EDAT- 2018/06/14 06:00
MHDA- 2018/12/20 06:00
CRDT- 2018/06/14 06:00
PHST- 2018/06/14 06:00 [entrez]
PHST- 2018/06/14 06:00 [pubmed]
PHST- 2018/12/20 06:00 [medline]
AID - 940635094 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2018.03.032 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):443-447. doi: 
      10.3760/cma.j.issn.1003-9406.2018.03.032.