Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2015
[Prenatal diagnosis for a women with a suspected birth history of Angelman syndrome].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Guo Caiqin, Xiao Jianping, Wang Junfeng, Yang Lan, Tang Ye
Аннотация
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.
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.
Предметные рубрики MeSH
AdultAngelman SyndromeChromosome AberrationsChromosome DeletionChromosomes, Human, Pair 15Chromosomes, Human, Pair 8Comparative Genomic HybridizationFemaleFetal DiseasesHumansIn Situ Hybridization, FluorescenceInfant, NewbornKaryotypingLoss of HeterozygosityOligonucleotide Array Sequence AnalysisPolymorphism, Single NucleotidePregnancyPregnancy OutcomePrenatal Diagnosis