Pure duplication of 19p13.3.Am J Med Genet A 2013; 161A(9):2300-4AJ
Abstract
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.
MeSH
Pub Type(s)
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Language
eng
PubMed ID
23897601
Citation
Ishikawa, Aki, et al. "Pure Duplication of 19p13.3." American Journal of Medical Genetics. Part A, vol. 161A, no. 9, 2013, pp. 2300-4.
Ishikawa A, Enomoto K, Tominaga M, et al. Pure duplication of 19p13.3. Am J Med Genet A. 2013;161A(9):2300-4.
Ishikawa, A., Enomoto, K., Tominaga, M., Saito, T., Nagai, J., Furuya, N., ... Kurosawa, K. (2013). Pure duplication of 19p13.3. American Journal of Medical Genetics. Part A, 161A(9), pp. 2300-4. doi:10.1002/ajmg.a.36041.
Ishikawa A, et al. Pure Duplication of 19p13.3. Am J Med Genet A. 2013;161A(9):2300-4. PubMed PMID: 23897601.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Pure duplication of 19p13.3.
AU - Ishikawa,Aki,
AU - Enomoto,Keisuke,
AU - Tominaga,Makiko,
AU - Saito,Toshiyuki,
AU - Nagai,Jun-ichi,
AU - Furuya,Noritaka,
AU - Ueno,Kentaro,
AU - Ueda,Hideaki,
AU - Masuno,Mitsuo,
AU - Kurosawa,Kenji,
Y1 - 2013/07/29/
PY - 2012/06/10/received
PY - 2013/04/15/accepted
PY - 2013/7/31/entrez
PY - 2013/7/31/pubmed
PY - 2014/3/29/medline
KW - 19p13.3 duplication
KW - array CGH
KW - developmental delay
KW - subtelomere
SP - 2300
EP - 4
JF - American journal of medical genetics. Part A
JO - Am. J. Med. Genet. A
VL - 161A
IS - 9
N2 - 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.
SN - 1552-4833
UR - https://www.unboundmedicine.com/medline/citation/23897601/Pure_duplication_of_19p13_3_
L2 - https://doi.org/10.1002/ajmg.a.36041
DB - PRIME
DP - Unbound Medicine
ER -