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我室将绒毛短期培养法〔1〕应用于临床发现1例罕见的染色体异常:69,XXX,-4,-15,+der(4),+der(15),t(4;15)(4 pter→4 q35∶∶15922→15qter;15pter→15q22∶∶4q35→4qter)。现报告如下: 患者,女,32岁,护士。因染色体异常〔46,XX,t(4;15)(35;q22)〕,停经54天,临床确诊为早孕,要求做产前诊断。孕4产1,第一胎孕50天人工流产;第二胎足月分娩一男婴,智力低下,高腭弓,耳位低,无阴囊,经细胞遗传学检查发现染色体异常,核型为46,XY,-4,+der(4),t(4;15)(q35;q22),2岁死于车祸。第三胎孕50天人流。此系第四次妊娠,停经44天曾有少量阴道流血,2天自愈。无毒物接触史及服避孕药史,父母非近亲结婚,体格检查无异常。
I room will be short hair culture method [1] used in clinical findings in 1 case of rare chromosomal abnormalities: 69, XXX, -4, -15, + der (4), + der (15), t (4; 15) 4 pter → 4 q35::15922 → 15qter; 15pter → 15q22:: 4q35 → 4qter). The report is as follows: Patient, female, 32 years old, nurse. Because of chromosomal abnormalities 〔46, XX, t (4; 15) (35; q22〕〕, menopause 54 days, clinically diagnosed as early pregnancy, requiring prenatal diagnosis. Pregnancy 4 1, the first pregnancy 50 days abortion; second child full-term delivery of a baby boy, mental retardation, high palatal arch, low ear, no scrotum, cytogenetic examination revealed chromosomal abnormalities, Karyotype 46 , XY, -4, + der (4), t (4; 15) (q35; q22) died of a car accident at the age of 2 years. The third pregnancy 50 days of abortion. This is the fourth pregnancy, menopause 44 days had a small amount of vaginal bleeding, 2 days healing. Non-toxic contact history and history of contraceptives, parents non-relatives married, no abnormal physical examination.