Sulewski J M, Dang T P, Ferguson K A, Ward S P, Ladda R L
Obstet Gynecol. 1980 Apr;55(4):469-75.
From a population of 515 subfertile couples and 119 women with amenorrhea, 38 patients were karyotyped because of specific signs and symptoms suggestive of chromosomal abnormality. The indications for karyotyping included primary amenorrhea, secondary amenorrhea with gonadal failure before 35 years of age, stature of less than 147.5 cm, azoospermia with eunuchoidism, and personal or family history of more than 2 spontaneous abortions or more than 2 severely abnormal children. In addition, 19 patients from the same subfertile population were selected randomly for karyotyping to serve as controls. Using banding techniques, chromosomal abnormalities were found in 18 of the 38 specifically selected individuals, whereas no abnormality was found among those randomly selected. Three of the 18 patients had chromosomal abnormalities not previously described; their karyotypes were 46,XY/48,XY,+8,+21; 46,X,inv dup(Xq)/q26 leads to q21); and 46,XY,t(9;20)(q22;q12).
在515对不育夫妇和119名闭经女性中，38名患者因存在提示染色体异常的特定体征和症状而进行了核型分析。核型分析的指征包括原发性闭经、35岁之前出现性腺功能衰竭的继发性闭经、身高低于147.5厘米、无精子症伴类无睾症，以及个人或家族有超过2次自然流产或超过2个严重异常孩子的病史。此外，从同一不育人群中随机挑选了19名患者进行核型分析作为对照。采用显带技术，在38名特定挑选的个体中有18人发现染色体异常，而随机挑选的个体中未发现异常。18名患者中有3人存在先前未描述的染色体异常；他们的核型分别为46,XY/48,XY,+8,+21；46,X,inv dup(Xq)/q26导致q21）；以及46,XY,t(9;20)(q22;q12)。
