Analysis of a girl with Phelan-McDermid syndrome.
10.3760/cma.j.issn.1003-9406.2019.02.015
- VernacularTitle:一例Phelan-McDermid综合征患儿的遗传学分析
- Author:
Lijuan ZHAO
1
,
2
;
Bo WAN
Author Information
1. Fetal Medicine Center, the Third Affiliated Hospital of Southern Medical University, Guangzhou, Guangdong 510630, China. wbzs5319753@
2. com.
- Publication Type:Case Reports
- MeSH:
Chromosome Deletion;
Chromosome Disorders;
Chromosomes, Human, Pair 22;
Female;
Humans;
In Situ Hybridization, Fluorescence;
Polymorphism, Single Nucleotide
- From:
Chinese Journal of Medical Genetics
2019;36(2):154-156
- CountryChina
- Language:Chinese
-
Abstract:
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.
