We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin.
- Authors
Dong, Yanling; Li, Jian; Zeng, Ziye; Zhang, Xue; Liang, Mingxin; Yi, Hong; Luo, Jianyun; Li, Junnan
- 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.
- Subjects
CONGENITAL heart disease; CHROMOSOMES; CHROMOSOME abnormalities; GENETIC counseling; DEVELOPMENTAL delay
- Publication
Molecular Cytogenetics (17558166), 2022, Vol 15, Issue 1, p1
- ISSN
1755-8166
- Publication type
Case Study
- DOI
10.1186/s13039-022-00586-1