论文部分内容阅读
病例1:患者,女,32岁,身高150cm,因原发性闭经、婚后不孕来我院就诊。父母及兄弟姐妹均身体健康。查体:智力正常,后发际低,有颈蹼,肘外翻,乳房发育尚可,幼稚外阴,阴毛及腋毛少。腹部超声:子宫发育不良(始基子宫);双侧卵巢探测不清。细胞遗传学检查:外周血淋巴细胞培养,G显带分析,染色体核型为45,X(11)/46,XY(32)。AZF区微缺失检测:检测位点均存在,未
Case 1: The patient, female, 32 years old, height 150cm, because of primary amenorrhea, infertility after marriage to our hospital. Parents and siblings are in good health. Physical examination: normal intelligence, low after the hair, webbed, elbow valgus, breast development may be, childish vulva, pubic hair and armpit less. Abdominal ultrasound: Uterine dysplasia (primordial uterus); unclear bilateral ovary detection. Cytogenetic examination: peripheral blood lymphocyte culture, G banding analysis, chromosome karyotype 45, X (11) / 46, XY (32). AZF microdeletion test: test sites are present, not yet