Detection For Numerical Sex Chromosome Abnormality In 5121 Children Using High-Resolution Melting Analysis Of Segmental Duplications

Numerical Sex Chromosome Abnormality is mainly comprised of Klinefelter syndrome(47,XXY),Turner syndrome(45,X),Superfemale syndrome(47,XXX),Supermale syndrome(47,XYY)?various types of mosaicism and multiple extra sex chromosomes.The patients lack special appearance and the abnormal symptoms often do not occur until puberty,however,the best opportunity for clinical intervention has missed at this time.It can obviously alleviate the symptoms of disease,lighten the mental burden and improve the quality of life of patients if asymptomatic children can be screened,diagnosed and treated as soon as possible.But the shortcomings of existing diagnostic techniques in cost,throughput,operation,instrumenttation and other aspects limit the development of large-scale population screening.This study adopts a High-Resolution Melting Analysis of Segmental Duplications which was developed by our group previously and can detect chromosome number abnormalities rapidly and accurately to screen Numerical Sex Chromosome Abnormality among 5121 sick and healthy children presenting to Xiamen Maternal and Child Health Hospital,and recalls the patients with abnormal screening as soon as possible to carry out gold standard diagnosis and follow-up intervention.The results showed that the incidence of Numerical Sex Chromosome Abnormality in 5121 children was 0.098%,and the incidence of clinical disease group(0.202%)was higher than that of health examination group(0.032%).The total and gender incidence of KS were 3/5121 and 3/3319,respectively.The total and gender incidence of TS and XXX were both 1/5121 and 1/1802,respectively.SD-HRM technology is highly consistent with the gold standard and the positive predictive values of KS,TS and XXX are 100%.The new and old physical examinations and targeted clinical test in children diagnosed by chromosome karyotype analysis showed that their growth and development were at the middle or lower level,but the trend of growth is basically normal and no obvious clinical symptoms have yet appeared.In the future,we will consult the latest international guidelines on treatment at any time and follow up closely to carry out relevant treatment in time to suit the appropriate age of intervention.In general,it is necessary to use SD-HRM as a auxiliary technology to screen Numerical Sex Chromosome Abnormality in hospitalized children at least if large-scale screening is difficult to carry out as well as make early diagnosis and treatment to not delay the best time for intervention so as to achieve secondary prevention and constantly improve the quality of births.