Duplication of intrachromosomal insertion segments 4q32→q35 confirmed by comparative genomic hybridization and fluorescent in situ hybridization

A 35-year-old man with infertility was referred for chromosomal analysis. In routine cytogenetic analysis, the patient was seen to have additional material of unknown origin on the terminal region of the short arm of chromosome 4. To determine the origin of the unknown material, we carried out high-...

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Bibliographic Details
Published in:Clinical and experimental reproductive medicine 2011, 38(4), , pp.238-241
Main Authors: Kim, Jin Woo, Park, Ju Yeon, Oh, Ah Rum, Choi, Eun Young, Ryu, Hyun Mee, Kang, Inn Soo, Koong, Mi Kyoung, Park, So Yeon
Format: Article
Language:English
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Case Report
산부인과학
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Summary:A 35-year-old man with infertility was referred for chromosomal analysis. In routine cytogenetic analysis, the patient was seen to have additional material of unknown origin on the terminal region of the short arm of chromosome 4. To determine the origin of the unknown material, we carried out high-resolution banding, comparative genomic hybridization (CGH), and FISH. CGH showed a gain of signal on the region of 4q32→q35. FISH using whole chromosome painting and subtelomeric region probes for chromosome 4 confirmed the aberrant chromosome as an intrachromosomal insertion duplication of 4q32→q35. Duplication often leads to some phenotypic abnormalities; however, our patient showed an almost normal phenotype except for congenital dysfunction in spermatogenesis.
ISSN:2233-8233
2233-8241
DOI:10.5653/cerm.2011.38.4.238