Pratt N R, Bulugahapitiya D T
J Med Genet. 1983 Apr;20(2):86-9. doi: 10.1136/jmg.20.2.86.
A newborn child with an unusual facial appearance and multiple abnormalities was found to be trisomic for a large part of 12q as a result of adjacent 1 segregation of a familial translocation, t(9;12) (p24;q21.2). A combination of cytogenetic analysis, clinical features, and enzyme marker studies allows an accurate assessment of the breakpoints. Although trisomic for a considerably larger area of 12q than other reported cases, there are many similar features suggesting that trisomy 12q is a clinically recognisable syndrome. The frequency and mode of segregation of 12q translocations and their implications for genetic counselling are discussed.
一名面部外观异常且有多种畸形的新生儿，因家族性易位t(9;12)(p24;q21.2)的相邻1分离，被发现12q的大部分区域三体化。细胞遗传学分析、临床特征和酶标记研究相结合，能够准确评估断点。尽管该患儿12q三体化的区域比其他报道的病例大得多，但仍有许多相似特征，提示12q三体是一种临床上可识别的综合征。本文讨论了12q易位的分离频率和模式及其对遗传咨询的意义。
