De novo translocation (8;12) and frontofacionasal dysplasia in a newborn boy.
作者信息
Habecker-Green J, Naeem R, Scott R M, Kanaan C, Bayer-Zwirello L, Cohn G
机构信息
Department of Obstetrics and Gynecology, Baystate Medical Center, Springfield, Massachusetts 01199, USA.
出版信息
Am J Med Genet. 2000 Sep 18;94(3):179-83. doi: 10.1002/1096-8628(20000918)94:3<179::aid-ajmg1>3.0.co;2-n.
Abstract
We describe a newborn boy one of triplets, whose karyotype was 46,XY, t(8;12)(q22;q21). Prenatal diagnosis of multiple craniofacial anomalies had been made. Following delivery, the patient was thought to exhibit findings consistent with a diagnosis of frontofacionasal dysostosis. We hypothesize that one of the break points of this translocation may involve a gene essential to craniofacial development.
摘要
Zotero 插件