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

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Author(s)
Yeo-Hyang KimHeung-Sik KimNam-Hee RyooJung-Sook Ha
Keimyung Author(s)
Ryoo, Nam HeeHa, Jung SookKim, Yeo HyangKim, Heung Sik
Department
Dept. of Laboratory Medicine (진단검사의학)
Dept. of Pediatrics (소아청소년학)
Journal Title
Annals of Laboratory Medicine
Issued Date
2013
Volume
33
Issue
1
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)
Keimyung Author(s)(Kor)
류남희
하정숙
김여향
김흥식
Publisher
School of Medicine
Citation
Yeo-Hyang Kim et al. (2013). Two Cases of Partial Trisomy 4p and Partial Trisomy 14q. Annals of Laboratory Medicine, 33(1), 69–74. doi: 10.3343/alm.2013.33.1.69
Type
Article
ISSN
2234-3806
DOI
10.3343/alm.2013.33.1.69
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/35008
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
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