15q25.3-qter 부분삼염색체 1예

Other Titles
A Case of Partial Trisomy 15q25.3-qter
Authors
김지혜김도훈이원목류남희하정숙전동석김재룡김준식이소영
Keimyung Author(s)
김도훈; 이원목; 류남희; 하정숙; 전동석; 김재룡; 김준식; 이소영
Department
Dept. of Laboratory Medicine (진단검사의학); Dept. of Pediatrics (소아청소년학); Dept. of Rehabilitation Medicine (재활의학)
Keywords
15q25-qter trisomy; Array comparative genomic hybridization (aCGH); IGF1R gene
Issue Date
2009
Publisher
School of Medicine
Citation
KOREAN JOURNAL OF LABORATORY MEDICINE, Vol.29(1) : 66-70, 2009
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.
URI
http://synapse.koreamed.org/Synapse/Data/PDFData/0039KJLM/kjlm-29-66.pdfhttp://kumel.medlib.dsmc.or.kr/handle/2015.oak/21524
ISSN
1598-6535
Appears in Collections:
1. 연구논문 > 1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
1. 연구논문 > 1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
1. 연구논문 > 1. School of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학)
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