계명대학교 의학도서관 Repository

Two Cases of Partial Trisomy 4p and Partial Trisomy 14q

Metadata Downloads
Author(s)
류남희하정숙김여향김흥식
Alternative Author(s)
Ryoo, Nam HeeHa, Jung SookKim, Yeo HyangKim, Heung Sik
Publication Year
2013
Abstract
We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.






Keywords: Trisomy 4p; Ttrisomy 14q; Translocation (4;14)
Department
Dept. of Laboratory Medicine (진단검사의학)
Dept. of Pediatrics (소아청소년학)
Publisher
School of Medicine
Citation
Annals of Laboratory Medicine, Vol.33(1) : 69-74, 2013
Type
Article
ISSN
2234-3806
DOI
10.3343/alm.2013.33.1.69
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/35008
Authorize & License
  • AuthorizeOpen
Files in This Item:

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.