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本文研究证实了因邻近基因缺失累及类固醇硫酸酯酶(STS)位点所致STS缺乏症和有相似复杂表型的2例男性患者。患者1,足月产,重2960克,干皮病。X光示左肱骨骨折伴多发性骨骺中心点状钙化,为软骨发育异常斑(CDP)。6岁时,身材矮小,短肢和鼻发育不全。白细胞染色体分析,为正常男性46,XY型,高分辨细胞遗传学检测无缺失。患者2,孕期正常,娩于妊41周,重3640克,2岁时,身材矮小,对称性短肢,鼻发育不全,干皮病和智力低下。检测单核细胞活力,为STS缺乏症。左侧隐睾,阴茎小。内分泌检
This study confirms 2 male patients with STS deficiency and similar complex phenotypes due to adjacent gene deletions involving steroid sulphatase (STS) sites. Patient 1, full-term, weighing 2960 grams, dry skin disease. X-ray shows the left humerus fractures with multiple epiphyseal centripetal calcification, as cartilage dysplasia (CDP). 6 years old, short stature, short limbs and nasal hypoplasia. Leukocyte chromosome analysis for normal male 46, XY-type, high-resolution cytogenetic detection without deletion. Patients 2, normal pregnancy, delivery in pregnancy 41 weeks, weighing 3640 grams, 2 years old, short stature, symmetrical short limbs, nasal hypoplasia, dry skin disease and mental retardation. Mononuclear cells were tested for STS deficiency. Left cryptorchidism, small penis. Endocrine tests