Pure Duplication of 19p 13.3

Chromosomal abnormalities involving 19p 13.3 have rarely been described in the published literature. Here, we report on a girl with a pure terminal duplication of 6.1 Mb on 19p 13.3, caused by an unbalanced translocation der(19)t(10; 19)(qter; p 13.3)dn. Her phenotype included severe psychomotor dev...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2013-09, Vol.161A (9), p.2300-2304
Main Authors: Ishikawa, A, Enomoto, K, Tominaga, M, Saito, T, Nagai, J-I, Furuya, N, Ueno, K, Ueda, H, Masuno, M, Kurosawa, K
Format: Article
Language:English
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Summary:Chromosomal abnormalities involving 19p 13.3 have rarely been described in the published literature. Here, we report on a girl with a pure terminal duplication of 6.1 Mb on 19p 13.3, caused by an unbalanced translocation der(19)t(10; 19)(qter; p 13.3)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 19p 13.3 might represent a distinct chromosomal syndrome.
ISSN:1552-4825
DOI:10.1002/ajmg.a.36041