Genetic effect and clinical phenotype analysis of ring chromosome
Objective To investigate the incidence of ring chromosome in prenatal and postnatal samples,and analyze its clinical phenotype and genetic characteristics.Methods A retrospective analysis was conducted on 47162 pregnant women who visited due to various prenatal diagnostic indications between 2012 and 2023,underwent amniocentesis and chromosomal karyotype analysis;and 86607 patients aged between 1 month and 48 years who underwent peripheral blood chromosomal karyotype analysis.Results A total of 20 ring chromosomes were detected in prenatal samples,with an incidence rate of ap-proximately 4.24/10000,among which r(X)accounted for about 37％,followed by r(18),r(Y),r(4),r(13),etc.In postnatal peripheral blood samples,36 cases of ring chromosomes were found,with an incidence rate of approximately 4.16/10000,where r(X)accounted for 74％,followed by r(Y)and r(21).Conclusion Ring chromosomes can lead to infertility in adults,growth and developmental abnormalities in children,and intellectual disabilities.The clinical phenotypes are diverse and complex,lacking specific indicators for prenatal diagnosis,which increases the difficulty of clinical diagnosis.G-banding karyotype analysis and CMA technology each have their advantages in the diagnosis of ring chromosomes,and a combined application is necessary for a definitive diagnosis of ring chromosomes.
ring chromosomeclinical phenotypeprenatal diagnosisring chromosome syndromechromosomal microarray analysis(CMA)
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NSTL
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