The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.

Expanded carrier screening (ECS) based on next-generation sequencing has been the subject of few studies to estimate the effectiveness of ECS in the Chinese population. A total of 3737 individuals from Southwest China or the general Chinese population, including 1048 pairs and 1641 individuals, were analysed by ECS for 155 monogenetic diseases. An ECS panel was used to detect 147 genes and 10,449 variants in 145 autosomal recessive and 10 X-linked recessive disorders.

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

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.