一个从携带者母亲那里遗传了8号染色体重组的孩子。
A child with a recombinant of chromosome 8 inherited from her carrier mother.
作者信息
Barnes I C, Kumar D, Bell R J
出版信息
J Med Genet. 1985 Feb;22(1):67-70. doi: 10.1136/jmg.22.1.67.
A female child with mental retardation and dysmorphic features was found to have a duplication deficiency of chromosome 8: rec(8)dup q,inv(8)(p23q24), a recombinant product derived from a familial pericentric inversion, inv(8)(p23q24)mat. Clinical features of this previously undescribed inversion product are compared with other reported cases of partial trisomy for the distal long arm of chromosome 8, since this segment is thought to be primarily responsible for the phenotypic features of the trisomy 8 syndrome.
一名患有智力发育迟缓及畸形特征的女童被发现存在8号染色体的重复缺失：rec(8)dup q，inv(8)(p23q24)，这是一种源自家族性臂间倒位inv(8)(p23q24)mat的重组产物。由于该片段被认为是8号染色体三体综合征表型特征的主要成因，所以将这种此前未被描述的倒位产物的临床特征与其他已报道的8号染色体长臂远端部分三体病例进行了比较。
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