Molecular cytogenetic analysis of a case with ring chromosome 3 syndrome.
- Author:
Kaihui ZHANG
1
,
2
,
3
;
Fengling SONG
;
Dongdong ZHANG
;
Haiyan ZHANG
;
Ying WANG
;
Rui DONG
;
Yufeng ZHANG
;
Yi LIU
;
Zhongtao GAI
Author Information
- Publication Type:Case Reports
- MeSH: Chromosomes, Human, Pair 3; genetics; Cytogenetic Analysis; methods; Cytogenetics; methods; Developmental Disabilities; genetics; Female; Heart Defects, Congenital; genetics; Humans; Infant; Karyotyping; methods; Ring Chromosomes; Syndrome
- From: Chinese Journal of Medical Genetics 2016;33(6):816-819
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the genetic cause for a child with developmental delay and congenital heart disease through molecular cytogenetic analysis.
METHODSG-banded karyotyping and chromosomal microarray analysis (CMA) were performed for the patient and his parents.
RESULTSThe proband's karyotype was detected as ring chromosome 3, and a 3q26.3-25.3 deletion encompassing 45 genes has been found with CMA. Testing of both parents was normal.
CONCLUSIONClinical phenotype of the patient with ring chromosome 3 mainly depends on the involved genes. It is necessary to combine CMA and karyotyping for the diagnosis of ring chromosome, as CMA can provide more accurate information for variations of the genome.
