Study on chromosomal abnormal karyotype and clinical phenotype in peripheral blood of 76 patients
Objective:To explore the correlation between clinical phenotype and sex chromosomal abnormal karyotype in peripheral blood.Methods:A retrospective analysis was performed on the peripheral blood karyotype of 5 652 patients with abnormal development of secondary sexual characteristics or abnormal pregnancy history at Longgang District Maternity & Child Healthcare Hospital of Shenzhen from January 2013 to May 2023.Patients diagnosed with sex chromosome karyotype abnormalities by peripheral blood karyotype analysis were recruited as research subjects to analyze the correlation between sex chromosome abnormalities and clinical phenotypes.Results:Among the 5 652 patients,76 cases(1.3％,76/5 652)had abnormal karyotypes of sex chromosomes,of which 25 cases(32.9％,25/76)had abnormal numbers of sex chromosomes,mainly including 45,X,47,XXX,47,XXY,48,XXYY,and their clinical manifestations were corresponding syndrome phenotypes.Patients with 47,XXY and 45,X have obvious abnormal development of genitals and secondary sexual characteristics.There were 13 cases(17.1％,13/76)of structural abnormalities in sex chromosomes,mainly including X or Y long arm or short arm deletions,equiarm X chromosomes,derived X chromosomes.The absence of the end of X long arm was characterized by premature ovarian failure and menstrual abnormalities,the absence of the end of X short arm was characterized by short stature,and the absence of Y long arm was characterized by azoospermia.There were 34 cases(44.7％,34/76)of abnormal karyotype chimerism in sex chromosomes,including 23 cases with abnormal number of sex chromosomes and 11 cases with abnormal structure of sex chromosomes.The types and proportions of abnormal karyotypes mosaicism were different,and clinical phenotypes showed significant differences.There were 4 cases of sexual reversal(5.3％,4/76),2 cases of female social gender with 46,XY,2 cases of male social gender with 4 6,XX.The clinical manifestations were infertility and azoospermia.Mutations in the androgen receptor(AR)gene result in a 46,XY karyotype,indicating female social sex.Conclusions:Abnormal sex chromosome karyotypes are closely related to some clinical phenotypes such as infertility,primary amenorrhea,premature ovarian failure,short stature,azoospermia and oligospermia.The diagnosis and clinical analyses of patients with peripheral blood chromosomal abnormalities can provide theoretical suggestions for treatment interventions and further fertility.
Sex chromosomesKaryotype analysisSex reversalClinical phenotypes
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维普
