10号染色体短臂部分三体及家族性7号与10号染色体易位t(7;10)(p22;p12)
Partial trisomy 10p and familial translocation t(7;10)(p22;p12).
作者信息
Johnson G, Bachman R, Roed T, Riddervold P
出版信息
Hum Genet. 1977 Mar 14;35(3):353-6. doi: 10.1007/BF00446626.
PMID:844878
Abstract
A girl with partial trisomy for the short arm of chromosome 10(p12leads to pter) due to mal chromosome segregation in the father 46,XY,t(7;10)(p22;p12) is described. The major abnormalities in this case are: mottled skin, mid-facial hypoplasia, low percentiles for weight, length, and head circumference, and club feet.
摘要
本文描述了一名因父亲染色体异常分离导致10号染色体短臂（p12至pter）部分三体的女孩，父亲核型为46,XY,t(7;10)(p22;p12)。该病例的主要异常表现为：皮肤斑驳、面中部发育不全、体重、身长和头围低于正常百分位数以及畸形足。
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