Duplication of intrachromosomal insertion segments 4q32-->q35 confirmed by comparative genomic hybridization and fluorescent in situ hybridization.
10.5653/cerm.2011.38.4.238
- Author:
Jin Woo KIM
1
;
Ju Yeon PARK
;
Ah Rum OH
;
Eun Young CHOI
;
Hyun Mee RYU
;
Inn Soo KANG
;
Mi Kyoung KOONG
;
So Yeon PARK
Author Information
1. Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea. paranip@yahoo.co.kr
- Publication Type:Case Report
- Keywords:
Chromosome 4;
Insertion 4p;
Duplication 4q;
Comparative genomic hybridization;
Fluorescent in situ hybridization;
Human
- MeSH:
Adult;
Arm;
Chromosome Painting;
Chromosomes, Human, Pair 4;
Comparative Genomic Hybridization;
Cytogenetic Analysis;
Humans;
In Situ Hybridization, Fluorescence;
Infertility;
Phenotype;
Spermatogenesis;
Trisomy
- From:Clinical and Experimental Reproductive Medicine
2011;38(4):238-241
- CountryRepublic of Korea
- Language:English
-
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-->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.
