因新发的4号染色体长臂；22号染色体短臂双着丝粒易位染色体核型46,XX,-22,+t(4;22)(q1200;p13)导致的单纯4号染色体三体
Pure 4p trisomy due to a de novo 4q;22p dicentric translocated chromosome karyotype 46,XX,-22,+t(4;22)(q1200;p13).
作者信息
de Almeida J C, Reis D F, Llerena Júnior J C
机构信息
Unidade de Citogenética Humana, Instituto de Biofísica Carlos Chagas F. UFRJ, Rio de Janeiro, Brazil.
出版信息
Ann Genet. 1991;34(2):108-10.
PMID:1746879
Abstract
A de novo t(4;22)(q1200;p13) is reported in a girl with a florid 4p trisomy phenotype. The abnormal chromosome was identified by high resolution, C-bands and confirmed by 5-BrdU as de novo dicentric translocated chromosome.
摘要
一名患有典型4p三体综合征表型的女孩被报道存在一种新发的t(4;22)(q1200;p13)。通过高分辨率、C带鉴定出异常染色体，并经5-溴脱氧尿苷证实为新发的双着丝粒易位染色体。
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