Tertiary trisomy (22q11q),47,+der(22),t(11;22) |
| |
Authors: | B M Biederman C C Lin R B Lowry R Somerville |
| |
Institution: | (1) Faculty of Medicine, Division of Pediatrics, University of Calgary, T2N 1N4 Calgary, Alberta, Canada;(2) Division of Medical Biochemistry, University of Calgary, T2N 1N4 Calgary, Alberta, Canada |
| |
Abstract: | Summary We describe a case of tertiary trisomy (22q11q) 47,XX,+der(22),(22pter 22q13: : 11q25 11qter) in a child with mental retardation, cleft palate, and congenital heart disease resulting from 3: 1 meiotic nondisjunction in a maternal (11;22) translocation carrier. The clinical findings in previously reported cases are reviewed and compared with the features of reported patients with partial trisomy 11q and trisomy 22 syndromes. Half of the ten reported families had additional balanced translocation carriers who may have an increased risk of having a liveborn child with an MCA/MR syndrome, although none have been reported to date. |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|