14号染色体长臂中段的从头串联重复。
De novo tandem duplication of the middle segment of the long arm of chromosome 14.
作者信息
Ito M, Mutoh K, Okuno T, Mikawa H, Edagawa J, Abe T
出版信息
Ann Genet. 1983;26(2):116-9.
PMID:6604486
Abstract
A boy with a peculiar face and slight psychomotor retardation was found to have a tandem duplication of segment 14q13-22. The karyotype was described as 46,XY, dir dup (14)(pter-q22::q13-q22::q22-qter), being trisomic for the segment. His parents were normal both phenotypically and cytogenetically. The clinical features of the propositus were compared with those of previously reported cases of trisomy 14q involving segment 14q13-22.
摘要
发现一名面部特征奇特且有轻微精神运动发育迟缓的男孩存在14q13 - 22节段串联重复。核型描述为46,XY,dir dup(14)(pter - q22::q13 - q22::q22 - qter)，该节段三体。他的父母在表型和细胞遗传学方面均正常。将先证者的临床特征与先前报道的涉及14q13 - 22节段的14q三体病例的特征进行了比较。
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