PMID- 26663058
OWN - NLM
STAT- MEDLINE
DCOM- 20160523
LR  - 20151215
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 32
IP  - 6
DP  - 2015 Dec
TI  - [Prenatal diagnosis for a women with a suspected birth history of Angelman 
      syndrome].
PG  - 827-9
LID - 10.3760/cma.j.issn.1003-9406.2015.06.016 [doi]
AB  - OBJECTIVE: To verify the diagnosis of Angelman syndrome(AS) in a proband in order 
      to provide prenatal diagnosis for his family. METHODS: Array comparative genome 
      hybridization(array-CGH) and fluorescence in situ hybridization(FISH) on 
      metaphase chromosomes were performed. RESULTS: The karyotype of the proband was 
      normal, and a regional deletion of 15q11.1-11.2 was detected by array-CGH. FISH 
      analysis has confirmed loss of heterozygosity in 15q11.2. No positive results 
      were obtained by array-CGH or karyotype analysis. Amniotic fluid sample was taken 
      from the proband's mother upon her subsequent pregnancy. The karyotype of the 
      fetus was normal, but SNP microarray chip analysis has identified loss of 
      heterozygosity in 8p23.1-p22. As no abnormality was observed by ultrasound and 
      other prenatal examinations, the pregnancy was recommended to continue to 
      full-term, and a healthy infant was born. CONCLUSION: Clinically suspected AS can 
      be diagnosed by array-CGH and FISH. The result may facilitate accurate genetic 
      counseling and prenatal diagnosis for the affected family.
FAU - Guo, Caiqin
AU  - Guo C
AD  - Wuxi Hospital for Maternal and Child Health Care, Wuxi, Jiangsu 214002, P.R. 
      China. 55215727@qq.com.
FAU - Xiao, Jianping
AU  - Xiao J
FAU - Wang, Junfeng
AU  - Wang J
FAU - Yang, Lan
AU  - Yang L
FAU - Tang, Ye
AU  - Tang Y
LA  - chi
PT  - Case Reports
PT  - English Abstract
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  - Adult
MH  - Angelman Syndrome/*diagnosis/genetics
MH  - *Chromosome Aberrations
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 15/genetics
MH  - Chromosomes, Human, Pair 8/genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Fetal Diseases/*diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Loss of Heterozygosity
MH  - Oligonucleotide Array Sequence Analysis
MH  - Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - Pregnancy Outcome
MH  - Prenatal Diagnosis/*methods
EDAT- 2015/12/15 06:00
MHDA- 2016/05/24 06:00
CRDT- 2015/12/15 06:00
PHST- 2015/12/15 06:00 [entrez]
PHST- 2015/12/15 06:00 [pubmed]
PHST- 2016/05/24 06:00 [medline]
AID - 940632174 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2015.06.016 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec;32(6):827-9. doi: 
      10.3760/cma.j.issn.1003-9406.2015.06.016.