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15q25.3-qter 부분삼염색체 1예

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Affiliated Author(s)
김도훈이원목류남희하정숙전동석김재룡김준식이소영
Alternative Author(s)
Kim, Do HoonLee, Won MokRyoo, Nam HeeHa, Jung SookJeon, Dong SeokKim, Jae RyongKim, Joon SikLee, So Young
Journal Title
Korean Journal of Laboratory Medicine
ISSN
1598-6535
Issued Date
2009
Keyword
15q25-qter trisomyArray comparative genomic hybridization (aCGH)IGF1R gene
Abstract
A 15q25-qter partial trisomy characterized by pre or postnatal overgrowth, tall stature, macrocephaly and craniosynostosis has rarely been reported. The cause of overgrowth has been thought to be the triplication of the insulin-like growth factor 1 receptor (IGF1R) gene located on the 15q26.3. We report a patient with partial trisomy 15q25.3-qter showing mental retardation, developmental delay, macrocephaly, long narrow face, ptosis, high palate arch, scoliosis, clinodactyly and overgrowth. Additional material located on terminal 2q was found in karyotyping analysis. In bacterial artificial chromosome (BAC) clone-based-array comparative genomic hybridization (aCGH) analysis, a gain of 31 clones on 15q25.3-qter and a loss of 2 clones on 2q37.3 were observed. An extra copy of IGF1R gene was observed on derivative chromosome 2 in FISH analysis. In conclusion, the patient was diagnosed to have de novo 46,XX,der(2)t(2;15)(q37.3;q25.3) chromosome complement. Adequate genetic counseling and regular follow-ups would be needed for the patient.
Alternative Title
A Case of Partial Trisomy 15q25.3-qter
Department
Dept. of Laboratory Medicine (진단검사의학)
Dept. of Pediatrics (소아청소년학)
Dept. of Rehabilitation Medicine (재활의학)
Publisher
School of Medicine
Citation
김지혜 et al. (2009). 15q25.3-qter 부분삼염색체 1예. Korean Journal of Laboratory Medicine, 29(1), 66–70. doi: 10.3343/kjlm.2009.29.1.66
Type
Article
ISSN
1598-6535
DOI
10.3343/kjlm.2009.29.1.66
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/36149
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
1. School of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학)
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