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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.

Authors+Show Affiliations

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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 -