Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature
Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature
复制标题
DOI：
10.1002/ajmg.10420
复制
发表时间：
2002-07-22
期刊：
影响因子：
--
通讯作者：
Northrup, H
中科院分区：
文献类型：
--
作者：
Plotner, PL;Smith, JL;Northrup, H
An infant with multiple congenital anomalies and severe developmental delay was found to have a derivative chromosome 4 by routine karyotypic analysis. Using telomeric FISH analysis, the source of the additional chromatin was determined to be from 20q. The infant, thus, is trisomic for 20q13.1 to 20qter and monosomic for the sub-telomeric region of 4q. Other cases of trisomy 20q13.1to 20qter associated with telomeric deletions are reviewed and compared to the current patient. (C) 2002 Wiley-Liss, Inc.
