PMID- 23926014
OWN - NLM
STAT- MEDLINE
DCOM- 20140116
LR  - 20130808
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 30
IP  - 4
DP  - 2013 Aug
TI  - [SNP-chip technology for identification of origins for prenatally detected marker 
      chromosomes].
PG  - 447-50
LID - 10.3760/cma.j.issn.1003-9406.2013.04.015 [doi]
AB  - OBJECTIVE: To determine the origin of 1 prenatally detected small supernumerary 
      marker chromosome (sSMC) using SNP-chip technology, and to deduce the underlying 
      mechanism. METHODS: The fetal sample was subjected to karyotype analysis. The 
      identified sSMC was subjected to genom wide scan using a SNP microarray chip. The 
      results were validated with fluorescence in situ hybridization (FISH). RESULTS: 
      The karyotype of the fetus was determined as 46, X, +mar, which was verified by 
      SNP microarray chip analysis as Yp11.2-11.3 duplication, along with loss of 
      Yq11.2 region, FISH analysis has confirmed that the sSMC has derived from the Y 
      chromosome. CONCLUSION: The karyotype of the fetus was determined as 46, X, 
      idic(Y) (pter--> p11.2::11.2--> pter). Regional deletion of Yq11.2 has been 
      associated with male azoospermia. SNP chip analysis can exclude minor deletions 
      and duplications with a size of more than 1 Mb, which may be applied for 
      verifying difficult cases as well as microdeletion and duplication syndromes upon 
      prenatal diagnosis.
FAU - Xu, Xue-qin
AU  - Xu XQ
AD  - Central Laboratory, The Central Hospital of Wenzhou, Zhejiang 325000, P. R. 
      China. tsh006@163.com; jxlu313@163.com.
FAU - Wang, Ping
AU  - Wang P
FAU - Tang, Shao-hua
AU  - Tang SH
FAU - Li, Huan-zheng
AU  - Li HZ
FAU - Zheng, Zhao-ke
AU  - Zheng ZK
FAU - Xie, Fan-ni
AU  - Xie FN
FAU - Lv, Jian-xin
AU  - Lv JX
LA  - chi
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
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 (Genetic Markers)
SB  - IM
MH  - Adult
MH  - Chromosome Disorders/*diagnosis/embryology/*genetics
MH  - Female
MH  - Genetic Markers/genetics
MH  - Humans
MH  - Karyotyping
MH  - Male
MH  - Oligonucleotide Array Sequence Analysis
MH  - *Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - Prenatal Diagnosis
EDAT- 2013/08/09 06:00
MHDA- 2014/01/17 06:00
CRDT- 2013/08/09 06:00
PHST- 2013/08/09 06:00 [entrez]
PHST- 2013/08/09 06:00 [pubmed]
PHST- 2014/01/17 06:00 [medline]
AID - 940630100 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2013.04.015 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):447-50. doi: 
      10.3760/cma.j.issn.1003-9406.2013.04.015.