Foerster W, Koch M, Hansen S
Monatsschr Kinderheilkd. 1985 Sep;133(9):694-7.
A newborn male with multiple malformations and an extrachromosome is presented. The cytogenetic study of peripheral blood lymphocytes revealed tetrasomy 9p: 47,XY, + t(9;9)(pter----q13::p11----pter). The C-banding pattern provided evidence for maternal origin of the extrachromosome. Tetrasomy for the short arm of chromosome 9 is a very rare condition; reports about only ten further patients have been found in the literature. The phenotypic expression resembles trisomy 9p, but tetrasomy 9p has more severe additional malformations.
本文报告了一名患有多种畸形和额外染色体的新生男婴。外周血淋巴细胞的细胞遗传学研究显示9号染色体短臂四体:47,XY,+t(9;9)(pter----q13::p11----pter)。C带模式证明了额外染色体的母系起源。9号染色体短臂四体是一种非常罕见的情况;文献中仅发现另外十例相关患者的报道。其表型表现类似于9号染色体短臂三体,但9号染色体短臂四体有更严重的其他畸形。