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http://dx.doi.org/10.5653/cerm.2011.38.4.238

Duplication of intrachromosomal insertion segments $4q32{\rightarrow}q35$ confirmed by comparative genomic hybridization and fluorescent $in$ $situ$ hybridization  

Kim, Jin-Woo (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine)
Park, Ju-Yeon (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine)
Oh, Ah-Rum (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine)
Choi, Eun-Young (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine)
Ryu, Hyun-Mee (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine)
Kang, Inn-Soo (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine)
Koong, Mi-Kyoung (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine)
Park, So-Yeon (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine)
Publication Information
Clinical and Experimental Reproductive Medicine / v.38, no.4, 2011 , pp. 238-241 More about this Journal
Abstract
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 $4q32{\rightarrow}q35$. FISH using whole chromosome painting and subtelomeric region probes for chromosome 4 confirmed the aberrant chromosome as an intrachromosomal insertion duplication of $4q32{\rightarrow}q35$. Duplication often leads to some phenotypic abnormalities; however, our patient showed an almost normal phenotype except for congenital dysfunction in spermatogenesis.
Keywords
Chromosome 4; Insertion 4p; Duplication 4q; Comparative genomic hybridization; Fluorescent in situ hybridization; Human;
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