新发平衡易位46，XY，t(6;8)(q13;q22) 。
De novo balanced reciprocal translocation 46,XY,t(6;8)(q13;q22).
作者信息
Fried K, Rosenblatt M, Mundel G
出版信息
J Med Genet. 1977 Apr;14(2):142-4. doi: 10.1136/jmg.14.2.142.
Abstract
A 5-month-old infant was examined because of minor multiple malformations. He was found to have a de novo blanced reciprocal translocation 46,XY,t(6;8(q13;q22). On follow-up at the age of 17 months his mental development was found to be within normal limits.
摘要
一名5个月大的婴儿因多处轻微畸形接受检查。发现他有一条新生的平衡相互易位染色体，核型为46,XY,t(6;8)(q13;q22)。在17个月大时进行随访，发现其智力发育在正常范围内。
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