一名重度智力发育迟缓男孩的4号染色体末端缺失
Terminal deletion 4q in a severely retarded boy.
作者信息
de Michelena M I, Campos P J
机构信息
Department of Morphologic Sciences, Universidad Peruana Cayetano Heredia, Lima, Peru.
出版信息
Am J Med Genet. 1989 Jun;33(2):228-30. doi: 10.1002/ajmg.1320330217.
PMID:2764033
Abstract
We report a boy with a de novo terminal deletion of chromosome 4q, (q31----qter) and compare him to 17 previously reported cases with the same anomaly. This case contributes further to the delineation of the del(4)(q31) phenotype, which seems to be clinically recognizable.
摘要
我们报告了一名患有4号染色体q末端（q31----qter）新生缺失的男孩，并将其与之前报道的17例具有相同异常的病例进行了比较。该病例进一步有助于明确del(4)(q31)的表型，这种表型在临床上似乎是可识别的。
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