家族性5号染色体短臂缺失综合征
Familial 5p- syndrome.
作者信息
Kushnick T, Rao K W, Lamb A N
出版信息
Clin Genet. 1984 Nov;26(5):472-6. doi: 10.1111/j.1399-0004.1984.tb01091.x.
Abstract
This report concerns a mother and son with a small terminal deletion of the short arm of chromosome 5 (del(5)(qter----p15.1:). Both mother and son had superficial resemblance to patients with classical Cri-du-Chat Syndrome, but lacked the severe mental and growth retardation generally associated with such cases.
摘要
本报告涉及一位母亲和她的儿子，他们的5号染色体短臂存在一个小的末端缺失（del(5)(qter----p15.1)）。母亲和儿子在外貌上与典型的猫叫综合征患者有相似之处，但没有此类病例通常伴随的严重智力和生长发育迟缓。
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