• 대한생식의학회:학술대회논문집
• /
• 대한불임학회 2006년도 The 5th Biannual Meeting of Pacific Rim Society for Fertility and Sterility
• /
• pp.70-71
• /
• 2006

• Clinical and Experimental Reproductive Medicine
• /
• 제38권4호
• /
• pp.238-241
• /
• 2011

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.

• 대한생식의학회:학술대회논문집
• /
• 대한불임학회 1997년도 제34차 추계 학술대회
• /
• pp.72-72
• /
• 1997

• 대한생식의학회:학술대회논문집
• /
• 대한불임학회 2002년도 제43차 추계학술대회
• /
• pp.73-73
• /
• 2002

• 대한생식의학회:학술대회논문집
• /
• 대한불임학회 1999년도 제38차 추계 학술대회
• /
• pp.110.1-110.1
• /
• 1999

• 대한생식의학회:학술대회논문집
• /
• 대한불임학회 2002년도 제42차 춘계학술대회
• /
• pp.67-67
• /
• 2002

• Journal of Genetic Medicine
• /
• 제9권2호
• /
• pp.89-92
• /
• 2012

Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are known to cause CMD. We present a Korean CMD girl with a normal 46,XX karyotype and a female reproductive organ phenotype. She was born at 2.35 kg at 38 weeks of gestation and showed characteristic phenotypes, including cleft palate, micrognathia, hypertelorism, flat nasal bridge, congenital bowing of limbs, hypoplastic scapulae, deformed pelvis, and 11 pairs of ribs. She also had an atrioseptal defect of the heart and marked laryngotracheomalacia requiring tracheostomy and tracheopexy. SOX9 mutation analysis revealed the presence of a novel nonsense mutation, $p.Gln369^*$, and the patient was genetically confirmed to have CMD. Although she showed marked failure to thrive and neurodevelopmental delay, she is now 40 months of age and is the only surviving patient with CMD in Korea.

• Clinical and Experimental Reproductive Medicine
• /
• 제18권2호
• /
• pp.223-231
• /
• 1991

During the years 1984 to 1989, in order to determine of chromosome abnormalities are associated with recurrent spontaneous abortions, cytogenetic studies were performed 384 couples. Abnormal karyotypes were found in 51(13.3%) couples. There was no apparent relation with the number of abortions. The abnormalities were as follows: 17(4.4%) balanced translocation; 15(3.9%) mosaicisms; 17(4.4%) pericentric inversion; 2(0.5%) addition or isochromosome. Chromosome abnormalities were observed in 34(67%) of the wives and 17(33%) of the husbands. In addition, we detected polymorphic variants of chromosomes in 89(23.2%) subjects. Reciprocal translocations(13/17) were more common than the robertsonian type(4/17). All of the mosaicisms were associated with the sex chromosomes in 10 females and 5 males subjects. Pericentric inversions were most common in chromosome 9. Compared to previously studied general populations, significantly higher frequencies of translocations, mosaicisms and inversions were found in couples with repetitive spontaneous abortion. This suggests that couples should have chromosome studies after two or more abortions.

• Asian Pacific Journal of Cancer Prevention
• /
• 제17권sup3호
• /
• pp.23-26
• /
• 2016

Breast cancer (BC) is the most common cancer and the second cause of mortality in women all around the world. It is caused by several factors including genetic determinants, so that both genetic susceptibility factors and environmental factors are involved in the etiology. Significance of genes functioning in steroid hormone synthesis and metabolism are well established in breast cancer susceptibility. In this study, 134 women with BC and 135 normal controls were analyzed for their genotypes for the polymorphisms, rs743572, rs10046 and rs4646903, resided in CYP17, CYP19 and CYP1A1 genes, respectively. Significant differences in distributions of allele and genotype frequencies were found for the rs10046 polymorphism in CYP19 (p-value=0.01, OR (CI 95%) =1.59 (1.1-2.3), p-value=0.04, OR (CI 95%) =1.7 (1.1-2.5) respectively). For rs743,572 and rs 4646903 polymorphisms, no significant associations were observed. A significant association was observed between the rs10046 polymorphism of the CYP19gene and breast cancer in Iranian patients. Due to inconsistent previous results, more studies in different populations with larger sample sizes are indicated.

• 대한생식의학회:학술대회논문집
• /
• 대한불임학회 2001년도 제40차 춘계학술대회
• /
• pp.67-67
• /
• 2001