Clinical and genetic study of a child with 15q11.2 microduplication
10.3760/cma.j.issn.1003-9406.2020.01.017
- VernacularTitle: 一例15q11.2微重复患儿的临床及遗传学分析
- Author:
Jianlong ZHUANG
1
;
Yuanbai WANG
;
Shuhong ZENG
;
Junyu WANG
;
Yuying JIANG
Author Information
1. Prenatal Diagnosis Center, Quanzhou Woman’s and Children’s Health Care Hospital, Quanzhou, Fujian 362000, China
- Publication Type:Clinical Trail
- Keywords:
15q11.2 microduplication;
Single nucleotide polymorphism;
Molecular genetic diagnosis
- From:
Chinese Journal of Medical Genetics
2020;37(1):64-66
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis of a child with developmental delay and intellectual disability.
Methods:Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis.
Results:No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus.
Conclusion:15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.
