Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Am J Med Genet A. 2013 Sep;161A(9):2300-4. doi: 10.1002/ajmg.a.36041. Epub 2013 Jul 29.
Chromosomal abnormalities involving 19p13.3 have rarely been described in the published literature. Here, we report on a girl with a pure terminal duplication of 6.1 Mb on 19p13.3, caused by an unbalanced translocation der(19)t(10;19)(qter;p13.3)dn. Her phenotype included severe psychomotor developmental delay, skeletal malformations, and a distinctive facial appearance, similar to that of a patient previously reported by Lybaek et al. [Lybaek et al. (2009); Eur J Hum Genet 17:904-910]. These results suggest that a duplication of >3 Mb at the terminus of 19p13.3 might represent a distinct chromosomal syndrome.
染色体 19p13.3 区域的异常非常罕见，目前仅在已发表的文献中有少量报道。在这里，我们报道了一例女孩，她携带的染色体异常为 19p13.3 区末端 6.1Mb 的纯末端重复，由不平衡易位 der(19)t(10;19)(qter;p13.3)dn 引起。她的表型包括严重的精神运动发育迟缓、骨骼畸形和独特的面部特征，与 Lybaek 等人之前报道的一例患者相似[Lybaek 等人，(2009)；Eur J Hum Genet 17:904-910]。这些结果表明，19p13.3 末端 >3Mb 的重复可能代表一种独特的染色体综合征。
