Kleefstra syndrome 1 and ring chromosome 9 in a case.
10.3760/cma.j.issn.1003-9406.2019.08.021
- Author:
Nan LYU
1
;
Dongxiao LI
;
Jingjie LI
;
Qing SHANG
;
Caiyun MA
Author Information
1. Rehabilitation Center, Children' s Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan 450003, China. sqing1965@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
Chromosome Deletion;
Chromosomes, Human, Pair 9;
genetics;
Craniofacial Abnormalities;
genetics;
DNA Copy Number Variations;
Female;
Heart Defects, Congenital;
genetics;
Humans;
Intellectual Disability;
genetics;
Ring Chromosomes
- From:
Chinese Journal of Medical Genetics
2019;36(8):837-840
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical and molecular genetic characteristics of patient with Kleefstra syndrome 1.
METHODS:Clinical data, chromosomal karyotype and whole genome copy number variations (CNVs) of the patient were analyzed.
RESULTS:The patient was found to have a karyotype of 45,XX,-9[4]/46,XX,r(9)(p24q34)[56]. Whole-genome CNVs detection revealed that she has carried a heterozygous deletion of approximately 670 kb at 9q34.3, which encompassed the entire EHMT1 gene. The region is strongly associated with Kleefstra syndrome (1/9q telomere deletion). In addition, the patient also had heterozygous deletion of 9pter, which may predispose to formation of ring chromosome 9.
CONCLUSION:The child was diagnosed with Kleefstra syndrome type 1 in conjunct with ring chromosome 9.
