ArticleMolecular cytogenetics2022
Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin.
Article in Molecular cytogenetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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8 authors at 2 institutions in 1 country.
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Abstract
backgroundRare chromosomal structural abnormalities, including ring chromosomes, often pose challenges to clinical genetic counselling.
resultsHere, 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.
conclusionsOur 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.
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