Phenotypic and genetic analysis of four patients with 13q33-q34 microdeletion.
- Author:
Huanhuan WANG
1
;
Bing XIAO
;
Xing JI
;
Jingmin ZHANG
;
Ying CAO
;
Lin NI
;
Hui YE
;
Lixiao SHEN
Author Information
- Publication Type:Journal Article
- MeSH: Child, Preschool; Chromosome Banding; methods; Chromosome Deletion; Chromosomes, Human, Pair 13; genetics; Female; Genetic Testing; methods; Humans; Infant; Intellectual Disability; genetics; Male
- From: Chinese Journal of Medical Genetics 2017;34(4):509-513
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the correlation between 13q33-q34 microdeletion and clinical phenotype.
METHODSRoutine chromosomal banding was performed to analyze the karyotype, while array-based comparative genomic hybridization (aCGH array) and single nucleotide polymorphism array(SNP array) were employed to investigate the genome copy number variations.
RESULTSThe karyotype of patient 1 was 46, XY, 9qh+,13qs. Patient 2 showed 46, XX, der (13). Patient 3 showed 46, XX, r(13) (p11.2q32) [43]/45, XX, 13[4]/46, XX, r(13;13) [2]/47, XX, 2r(13;13) [1]. Patient 4 did not undergo chromosome karyotyping analysis. Array analysis showed that four patients have different microdeletions in 13q33-34 region and had common features of 13q33-q34deletion including intellectual disability, facial dysmorphism, microcephaly, hypotonia, low birth weight and genital abnormality.
CONCLUSIONThe severity of phenotypes showed no correlation with the size of deletion in 13q33-q34. The lower percentage of patients with congenital heart disease suggested a complex pathogenesis of such disease. EFNB2, LIG4 and SOX1 in 13q33-34 region are promising candidates for mental retardation. LIG4 was also a likely candidate for microcephaly.
