Prenatal diagnosis of a fetus with Phelan-McDermid syndrome and 21q21 microdeletion by multiple genetic techniques.
10.3760/cma.j.cn511374-20200303-00123
- Author:
Huaxiang SHEN
1
;
Suping LI
;
Yuxia JIN
Author Information
1. Jiaxing Maternal and Child Health Care Hospital, Jiaxing College, Jiaxing, Zhejiang 314050,China. jyx0805@163.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Deletion;
Chromosome Disorders/genetics*;
Chromosomes, Human, Pair 21/genetics*;
Chromosomes, Human, Pair 22/genetics*;
Female;
Fetus;
Humans;
In Situ Hybridization, Fluorescence;
Male;
Polymorphism, Single Nucleotide;
Pregnancy;
Prenatal Diagnosis;
Sequence Deletion/genetics*
- From:
Chinese Journal of Medical Genetics
2020;37(12):1387-1390
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out prenatal diagnose for a fetus with ultrasonography abnormalities using multiple genetic techniques.
METHODS:Routine G-banding chromosomal analysis and single nucleotide polymorphism array (SNP-array) were applied in conjunction for the prenatal diagnosis of the fetus. The result was confirmed by fluorescence in situ hybridization (FISH).
RESULTS:SNP-array detected that the fetus has carried a hemizygous 5.1 Mb deletion at 22q13.31q13.33, which is associated with Phelan-McDermid syndrome, and a hemizygous 4.5 Mb deletion at 21q21.1q21.2. FISH analysis of the fetus and its parents suggested that both deletions were de novo in origin.
CONCLUSION:The hemizygous deletions on 21q21.1q21.2 and 22q13.31q13.33 probably underlay the abnormal phenotype of the fetus. Genetic analysis can provide crucial information for the prenatal diagnosis and genetic counseling.
