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English Abstract
Journal Article
[Analysis of a girl with Phelan-McDermid syndrome].
Zhonghua Yi Xue Yi Chuan Xue za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics 2019 Februrary 11
OBJECTIVE: To explore the value of single nucleotide polymorphism (SNP) array for molecular diagnosis.
METHODS: A Chinese girl suspected for Phelan-McDermid syndrome was subjected to routine G-banding chromosomal analysis, SNP array, and fluorescence in situ hybridization (FISH) assaying.
RESULTS: G-banding karyotype analysis has found no abnormality in the girl and her parents. SNP array detected a heterozygous 2.1 Mb deletion at 22q13.33 in the girl, which was confirmed by FISH. The same deletion was not found in either parent. FISH analysis found that her father has carried a balance t(4;22) translocation.
CONCLUSION: SNP-array has the advantage of high resolution and accuracy, which is valuable for the diagnosis of microdeletion or microduplication syndromes.
METHODS: A Chinese girl suspected for Phelan-McDermid syndrome was subjected to routine G-banding chromosomal analysis, SNP array, and fluorescence in situ hybridization (FISH) assaying.
RESULTS: G-banding karyotype analysis has found no abnormality in the girl and her parents. SNP array detected a heterozygous 2.1 Mb deletion at 22q13.33 in the girl, which was confirmed by FISH. The same deletion was not found in either parent. FISH analysis found that her father has carried a balance t(4;22) translocation.
CONCLUSION: SNP-array has the advantage of high resolution and accuracy, which is valuable for the diagnosis of microdeletion or microduplication syndromes.
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