Kreuz F R, Wittwer B H
Institute of Medical Genetics, Hospital Altstadt, Magdeburg, Germany.
Clin Genet. 1993 Mar;43(3):132-8. doi: 10.1111/j.1399-0004.1993.tb04437.x.
We report the cases of a mother and her two sons with del(2) (q32). Their phenotypes are compared with those of 20 individuals reported previously in the literature. All described cases apparently have identical deletions. Common manifestations include small size at birth, retarded growth and development, cranio-facial dysmorphism and skeletal and ocular anomalies. Our patients also have symptoms of the wrinkly skin syndrome (WSS), which is characterized by the wrinkling of the abdominal skin and of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, musculoskeletal anomalies, microcephaly, mental retardation and an old appearance. Our three patients show a striking pattern in skin biopsies when viewed by light microscopy, and a peculiar grimacing was noted in the boys. Their serum copper and caeruloplasmin levels are slightly raised.
我们报告了一位母亲及其两个儿子患有2号染色体长臂3区2带缺失（del(2)(q32)）的病例。将他们的表型与文献中先前报道的20例个体的表型进行了比较。所有描述的病例显然具有相同的缺失。常见表现包括出生时体型小、生长发育迟缓、颅面畸形以及骨骼和眼部异常。我们的患者还具有皱皮综合征（WSS）的症状，其特征为腹部皮肤、手背和脚背皮肤起皱，皮肤弹性回缩降低，掌纹和跖纹增多，肌肉骨骼异常，小头畸形，智力迟钝以及面容苍老。通过光学显微镜观察，我们的三名患者在皮肤活检中呈现出显著的模式，并且在男孩中观察到一种奇特的鬼脸表情。他们的血清铜和铜蓝蛋白水平略有升高。
