Identification of a de novo interstitial 21q22.12q22.13 deletion in a patient with intellectual disability.
10.3760/cma.j.issn.1003-9406.2019.07.012
- VernacularTitle:一例新发21q22.12q22.13微缺失智力障碍患儿的分子遗传学研究
- Author:
Ying PENG
1
;
ZhengJun JIA
;
Jialun PANG
;
Jiancheng HU
;
Hui XI
;
Hua WANG
Author Information
1. Prenatal Diagnosis Center of Hunan Province, Maternal and Child Health Care Hospital of Hunan Province, Changsha, Hunan 410008, China. wanghua213@aliyun.com.
- Publication Type:Journal Article
- MeSH:
Child;
Developmental Disabilities;
genetics;
Epilepsy;
genetics;
Genetic Association Studies;
Humans;
Intellectual Disability;
genetics;
Karyotyping;
Protein-Serine-Threonine Kinases;
genetics;
Protein-Tyrosine Kinases;
genetics;
Sequence Deletion
- From:
Chinese Journal of Medical Genetics
2019;36(7):704-707
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis of a child featuring intellectual disability, developmental delay and epilepsy.
METHODS:Cytogenetic and molecular analysis including chromosomal karyotyping analysis, single nucleotide polymorphism array (SNP array) and qPCR were performed.
RESULTS:The karyotype of the child was determined as 46, XX; SNP array: arr [19]21q22.12q22.13(36 860 195-38 801 482)×1 dn. A heterozygous 1.9 Mb microdeletion was detected at 21q22.12q22.13. qPCR has confirmed deletion of exon 1 of the DYRK1A gene, which has occurred de novo.
CONCLUSION:A 21q22 deletion was diagnosed with multiple genetic methods. Genotype-phenotype correlation suggested DYRK1A to be a candidate for intellectual disability.
