PMID- 27060314
OWN - NLM
STAT- MEDLINE
DCOM- 20160630
LR  - 20191210
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 33
IP  - 2
DP  - 2016 Apr
TI  - [Improved identification for 5p deletion syndrome and partial trisomy 11q 
      presented in a fetus by SNP array].
PG  - 195-9
LID - 10.3760/cma.j.issn.1003-9406.2016.02.015 [doi]
AB  - OBJECTIVE: To investigate the prenatal application of single nucleotide 
      polymorphism array (SNP array) in the identification of 5p deletion syndrome with 
      partial trisomy 11q. METHODS: G-banded karyotyping and SNP array were performed 
      using amniocytes on a fetus with multiple malformations for the identification of 
      chromosome abnormality. Furthermore, karyotyping was carried out on the parental 
      peripheral blood specimens to ascertain the origin of chromosome abnormalities 
      and then fluorescence in situ hybridization (FISH) was also utilized to confirm 
      the results. RESULTS: Karyotype of amniocyte showed 46, XY, der(5) (?::p15 --> 
      qter). SNP array revealed a 13.907 Mb deletion at 5p15.33p15.2 (chr5: 
      113576-14020561), overlapping the region of 5p deletion syndrome, and a 18.254 Mb 
      duplication at 11q23.3 q25 (chr11: 116684627-134938470), overlapping no known 
      syndrome. Karyotype of the parents showed a normal 46,XX in mother and 
      46,XY,t(5;11)(p15;q23) in father. Three-color metaphase FISH analysis on paternal 
      peripheral blood specimens also confirmed the paternal karyotyping result. 
      CONCLUSION: SNP array could uncover 5p deletion syndrome with partial trisomy 11q 
      unidentified by G-banded karyotyping and accurately locate the genomic 
      breakpoints, facilitating the mapping of pathogenic critical regions and the 
      identification of candidate genes, also accumulating research data for 
      genotype-phenotype study.
FAU - Shi, Shanshan
AU  - Shi S
AD  - Fetal Medicine Center, The First Affiliated Hospital of Jinan University, 
      Guangzhou, Guangdong 510630, China. mood0904@aliyun.com.
FAU - Pan, Guanyu
AU  - Pan G
FAU - Yang, Yandong
AU  - Yang Y
FAU - Yan, Ruiling
AU  - Yan R
FAU - Li, Weijing
AU  - Li W
LA  - chi
PT  - Evaluation Study
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  - Chromosome 11, partial trisomy 11q
SB  - IM
MH  - Adult
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosome Disorders/diagnosis/embryology/*genetics
MH  - Chromosomes, Human, Pair 11/genetics
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Oligonucleotide Array Sequence Analysis/*methods
MH  - *Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - Prenatal Diagnosis/methods
MH  - Trisomy/diagnosis/*genetics
EDAT- 2016/04/10 06:00
MHDA- 2016/07/01 06:00
CRDT- 2016/04/10 06:00
PHST- 2016/04/10 06:00 [entrez]
PHST- 2016/04/10 06:00 [pubmed]
PHST- 2016/07/01 06:00 [medline]
AID - 940632041 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2016.02.015 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Apr;33(2):195-9. doi: 
      10.3760/cma.j.issn.1003-9406.2016.02.015.