Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin.

ABSTRACT:

Background

Rare chromosomal structural abnormalities, including ring chromosomes, often pose challenges to clinical genetic counselling.

Results

Here, we report a newborn with congenital heart disease and developmental delay who inherited ring chromosome 6 [46,XY,r(6)(p25q27)mat] from a phenotypically normal mother. Genotypes and phenotypes were analysed by molecular cytogenetic analysis, whole-exome sequencing and literature review.

Conclusions

Our study showed that the pathogenicity of the ring chromosome abnormality [r(6)(p25q27)] was mainly affected by chromosome imbalance, deletions of genes with haploinsufficiency, duplications of genes with triple sensitivity, parental inheritance of the imbalance and the imprinting status of the affected genes.

SUBMITTER: Dong Y 

PROVIDER: S-EPMC8897903 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature