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本文报告一例13岁男孩9号染色体短臂部分缺失(p22→pter)。他与以前所报导的9p-病例具有许多共同特征,如智力发育迟缓,眼距宽,长人中,颈短宽,颈蹼,乳头间距远离以及外生殖器异常等。但不同的是本例具有多指与早熟现象。患者出生时,母亲和父亲的年龄分别为25和50岁,健康,非血缘结婚。父系第一代亲属中有一个男性是智力迟缓,母系第一代亲属中有一个男性为Down氏综合征,父母体检正常。病孩出生体重2.95公斤,身长43公分,生后哭声弱,紫绀,双手均有尺侧多指,8岁10个月时身长147公分,睾丸、生殖器和阴毛发育接近成人。骨龄13岁,血清睾酮含
This article reports a partial deletion of the short arm (p22 → pter) on chromosome 9 in a 13-year-old boy. He has many common features with previously reported 9p-cases such as retardation of intelligence, widening of the ocular length, short and wide neck, long neck, distance from the nipple and genitalia abnormalities. But the difference is that this case has multi-finger and precocious phenomenon. At birth, mothers and fathers are 25 and 50 years of age, both healthy and non-married. One of the first-generation relatives of paternal relatives was mentally retarded. One of the first-generation relatives of the maternal family had Down’s syndrome, and their parents had a normal physical examination. The sick child weighs 2.95 kilograms and grows 43 centimeters. After birth, her cries are weak and cyanosis. She has ulnar fingers in both hands. She is 147 cm long and 10 months old at 8 years old. The testes, genital organs and pubic hair grow close to adults. Bone age 13 years, serum testosterone