由于母亲一条平衡易位t(X;3)(p22.3;p21)发生错误分离导致的“纯合性”3p部分三体。
"Pure" partial trisomy 3p due to the malsegregation of a balanced maternal translocation t (X;3) (p22.3;p21).
作者信息
de Almeida J C, Reis D F, Llerena J C, Pereira E T
机构信息
Unidade de Citogenetica Humana, Instituto de Biofisica Carlos Chagas Filho CCS, UFRJ, BLOCO G, Cidade Universitária, Rio de Janeiro, Brasil.
出版信息
Ann Genet. 1989;32(3):181-3.
The authors present the clinical and cytogenetic studies of a white malformed baby with dup (3p) secondary to the malsegregation of a maternal balanced (X;3) (p22.3;p21) translocation. Besides the typical clinical features he also presented polydactyly of both hands. X-replication findings of the mother's lymphocytes did not strictly follow the usual inactivation pattern of balanced X;A translocations.
作者报告了一名患有dup(3p)的白色畸形婴儿的临床和细胞遗传学研究，该婴儿是由于母亲平衡的(X;3)(p22.3;p21)易位发生错误分离所致。除了典型的临床特征外，他还表现为双手多指畸形。母亲淋巴细胞的X复制结果并未严格遵循平衡的X;A易位的通常失活模式。
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