Smith A C, Spuhler K, Williams T M, McConnell T, Sujansky E, Robinson A
Genetic Services, Children's Hospital, Denver, CO 80218.
Am J Hum Genet. 1987 Dec;41(6):1083-103.
A rec(8) dup(q) syndrome, secondary to a pericentric inversion--inv(8)(p23q22)--has been identified in 26 probands from Hispanic kindreds in the southwestern United States. The clinical phenotype of the Hispanic rec(8) syndrome includes a dysmorphic facies, cardiovascular and urinary-tract malformations, and mental retardation. Segregation analysis utilizing pedigree and cytogenetic data from 31 kindreds including five additional kindreds from additional sources has provided computation of genetic risks for counseling. An inv(8) carrier parent has a 6.2% risk of having a rec(8) child. The transmission rate of the inv(8) was significantly higher for inv(8) carrier mothers (59%) than for carrier fathers (42%). The combined transmission rate for both sexes was 53%. Risk for spontaneous abortion or stillbirth (11.3%) was not higher than the general population frequency of 13%-15%. It is significant that all kindreds identified to date are of Hispanic background with ancestors traced to the southern Colorado/northern New Mexico region. By means of extended pedigree information, three independently ascertained kindreds have been linked through common ancestry 4 generations in ascendance. The Hispanic background, geographic localization, and common ancestry in three kindreds suggest a single founder of the Hispanic inv(8) in the Southwest.
在美国西南部的西班牙裔家族中，已在26名先证者身上发现了一种继发于臂间倒位——inv(8)(p23q22)的rec(8)dup(q)综合征。西班牙裔rec(8)综合征的临床表型包括面部畸形、心血管和泌尿系统畸形以及智力发育迟缓。利用来自31个家族（包括另外从其他来源获取的5个家族）的系谱和细胞遗传学数据进行的分离分析，为遗传咨询提供了遗传风险计算。inv(8)携带者父母生育rec(8)患儿的风险为6.2%。inv(8)携带者母亲的inv(8)传递率（59%）显著高于携带者父亲（42%）。两性的综合传递率为53%。自然流产或死产的风险（11.3%）并不高于一般人群13% - 15%的频率。值得注意的是，迄今确定的所有家族均为西班牙裔背景，其祖先可追溯到科罗拉多州南部/新墨西哥州北部地区。通过扩展的系谱信息，三个独立确定的家族通过四代以上的共同祖先联系在一起。三个家族的西班牙裔背景、地理定位和共同祖先表明，西南部西班牙裔inv(8)存在单一的奠基者。
