9号染色体短臂单体和三体中的典型和反典型体征。以一例46,XY,del(9)(pter→p12)为例。
Type and contretype signs in monosomy and trisomy 9p. On a case 46,XY, del (9) (pter yields p12:).
作者信息
Hernandez A, Rivera H, Jiménez-Sainz M, Fragoso R, Nazara Z, Cantu J M
出版信息
Ann Genet. 1979;22(3):155-7.
PMID:316671
Abstract
A 15-month-old male with a partial monosomy 9p is reported. The comparative analysis with other cases of 9p monosomy demonstrates a typical phenotype which when compared to that of 9p trisomy, permits the delineation of fifteen "type and contretype" signs.
摘要
报道了一名患有9p部分单体型的15个月大男性。与其他9p单体型病例的比较分析显示出一种典型的表型，与9p三体型的表型相比，可确定15个“典型和反典型”体征。
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