• Journal of Dental Anesthesia and Pain Medicine
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• 제17권2호
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• pp.139-141
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• 2017

Chromosome 6p duplication is very rare and clinically characterized by short stature, mental retardation, and congenital heart diseases. Patients with mental retardation may present with poor oral health conditions. Dental treatment may need to be performed under general anesthesia in such patients. Our case report deals with induction of general anesthesia to a patient with chromosome 6p duplication, for dental treatment. The selection of a nasotracheal tube of an appropriate size, because of the patient's short stature, was especially important for airway management. In the present case, the patient with chromosome 6p duplication was intubated with a nasotracheal tube, which was not age-matched but adapted to the height and physique of the patient.

• Clinical and Experimental Pediatrics
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• 제46권1호
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• pp.83-85
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• 2003

저자는 재태연령 30주, 출생체중 1,100 g의 미숙아에서 출생시 양안의 무안구증, 극심한 처짐, 양안 격리증, 낮은 코, 짧은 목, 저이개, 소악증, 양측성 뇌수종, 양손의 simian line이 관찰되었기에 시행한 임파구 배양 검사상 46, XX, del(6)(p23)의 소견을 보여 이탈점이 6p23으로 판명된 terminal deletion 6p23, 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• 한국가금학회지
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• 제12권2호
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• pp.83-87
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• 1985

This experiment was carried out to identify the chromosomes of silkie. It was many difference from other breeds in morphology and characteristics. In this experiment, chromosomal analysis was used early embryos. In aspect of morphological chromosomes, chromosomal size and shape are similar to other breeds. The chromosomes of silkie were shown to morphlogy as follows. They were identified that chromosome #l and #2 were grouped as submentacentric, ＃3, ＃5 and ＃6 were telocentric ＃4 and ＃7 were acrocentric and ＃8 was metacentric chromosome. Zㆍsex chromosome was shown 5th, W-sex chromosome was 8th to 9th and they were metacentric chromosome, respectively. Each chromosome through the G-banding was shown the 3 dark bands in 1 p2, distinct light band in 1p1, dark band in 2p2, broad light band in 3pl, dark band from centromere and distal part in 4th chromosome and dark band in 5pl. Z-sex chromosome was shown dark at p-arm distal part.

• Asian Pacific Journal of Cancer Prevention
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• 제16권6호
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• pp.2231-2235
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• 2015

Genome-wide association studies (GWASs) of the entire genome provide a systematic approach for revealing novel genetic susceptibility loci for breast cancer. However, genetic association studies have hitherto been primarily conducted in women of European ancestry. Therefofre we here performed a pilot GWAS with a single nucleotide polymorphism (SNP) array 5.0 platform from $Affymetrix^{(R)}$ that contains 443,813 SNPs to search for new genetic risk factors in 89 breast cancer cases and 46 healthy women of Indonesian ancestry. The case-control association of the GWAS finding set was evaluated using PLINK. The strengths of allelic and genotypic associations were assessed using logistic regression analysis and reported as odds ratios (ORs) and P values; P values less than $1.00{\times}10^{-8}$ and $5.00{\times}10^{-5}$ were required for significant association and suggestive association, respectively. After analyzing 292,887 SNPs, we recognized 11 chromosome loci that possessed suggestive associations with breast cancer risk. Of these, however, there were only four chromosome loci with identified genes: chromosome 2p.12 with the CTNNA2 gene [Odds ratio (OR)=1.20, 95% confidence interval (CI)=1.13-1.33, $P=1.08{\times}10^{-7}$]; chromosome 18p11.2 with the SOGA2 gene (OR=1.32, 95%CI=1.17-1.44, $P=6.88{\times}10^{-6}$); chromosome 5q14.1 with the SSBP2 gene (OR=1.22, 95%CI=1.11-1.34, $P=4.00{\times}10^{-5}$); and chromosome 9q31.1 with the TEX10 gene (OR=1.24, 95%CI=1.12-1.35, $P=4.68{\times}10^{-5}$). This study identified 11 chromosome loci which exhibited suggestive associations with the risk of breast cancer among Indonesian women.

• 한국산림과학회지
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• 제45권1호
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• pp.51-61
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• 1979

교배(交配) 모수(母樹)인 P. alba화분(花粉) 모수(母樹)인 P. glandulosa 및 그의 잡종(雜種)인 ${\times}$P. albaglandulosa에 관(關)한 화분모세포(花粉母細胞)의 감수분열(減數分裂)에 있어 염색체행동(染色体行動)과 대합(對合) 현상(現象)에 관(關)해 조사(調査)하였다. 1. Metaphase II에서 Earyl separation chromosome을 갖는 핵판(核板)이 가장 적은 개체(個体)는 P. glandulosa로 11.0%며 ${\times}$P. albaglandulosa는 13.0%로 가장 높았다. 2. Metaph se II에서 ${\times}$P. albaglandulosa는 11.0%의 Early separation chromosome이 출현(出現)했으나 양친양친수(兩親兩親樹)와 차이(差異)는 없었다. 3. Anahase I에서 Lagging chromosome의 출현율(出現律)은 ${\times}$P. albaglandulosa가 다소(多少) 높아 11.6%로 나타났으며 chromosome bridge에서는 양친수(兩親樹)와 거의 차(差)가 없었다. 4. Anaphase II때 Lagging chromososome은 ${\times}$P. albaglandulosa에서 다소(多少) 높은 빈도(頻度)로 10.2%였으며 chromosome bridge P. glandulosa에서 가장 높은 빈도(頻度)로 출현(出現)하였다. 5. Abnormal pollen sporad는 ${\times}$P. albaglandulosa에서 가장 많이 출현(出現)하여 8.2%를 나타냈다. 이상(以上)의 결과(結果) P. alba, P. glandulosa 및 ${\times}$P. albaglandulosa는 화분모세포분열(花粉母細胞分裂)에 있어서 염색체분열접합(染色体分裂接合)이 정상적(正常的) 행동(行動)을 하고 있어 결국(結局) 정상(正常) 화분형식(花粉形式)을 행(行)하는 수종(樹種)이라 결론(結論)할 수 있다.

• Reproductive and Developmental Biology
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• 제31권4호
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• pp.273-278
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• 2007

This study was conducted to examine the protein kinase inhibitors, 6-dimethylaminopurine (DMAP) and cycloheximide (CHXM) on the development and chromosome constitution of porcine parthenogenetic embryos. In vitro matured oocytes were activated by electric stimuli (ES) or a combination of ES with culture in 2 mM DMAP or $10{\mu}g/ml$ CHXM for 4 hr. Activated oocytes were cultured in PZM-3 for 6 days. Some 1-cell embryos and blastocysts were fixed by air dry method to analyze the chromosome constitutions and/or total cell number. Blastocyst development of DMAP-treated group (26.7%) was significantly higher (p<0.05) than those of CHXM-treated and ES control groups. Ploidy in 1-cell stage embryos was not different among groups (77.3 to 81.0%), however, proportion of diploid chromosome constitutions was high in DMAP-treated group (61.9%, p<0.05). In the blastocyst stage, proportion of diploid chromosome plates was significantly high in DMAP-treated group (64.2%, p<0.05), and proportion of abnormal chromosome plates was higher in CHXM-treated group (36.6%, p<0.05) than DMAP-treated group (28.3%,). Proportion of embryos with abnormal chromosome constitutions was slightly increased by DMAP (40.0%) and CHXM (42.1%) treatment due to the increasing of mixoploid (47.4 and 52.0%). The present study shows that the DMAP treatment increase the development of porcine parthenotes. However, parthenogenetic activation by ES or combined treatment with ES and DMAP or CHXM detrimentally affects the chromosome constitutions of porcine parthenotes during early embryonic development, leads to increased abnormal ploidy in the blastocyst stage.

• 대한임상검사과학회지
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• 제41권1호
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• pp.6-10
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• 2009

Ring chromosome occurs when both telomeres of a chromosome are lost and the remaining portion of the chromosome circularizes to re-establish chromosome stability. This abnormal structure shows mitotic instability unlike the normal chromosomes, causing problems during mitosis. Here, we report one case of "chromosome 4 ring syndrome" on a 6-month-old male patient with growth retardation. Ring chromosome, monosomy, dicentric chromosome were shown by conventional chromosome analysis using peripheral blood. Peripheral blood was used and incubated for 72 hours for chromosome analysis. 3 probes (LSI WHS SpectrumOrange/CEP 4 SpectrumGreen, 4p subtelomere probe, 4q subtelomere probe) were used to detect the origin and breakpoint of ring chromosome 4 by FISH (fluorescense in situ hybridization) technique.

• 대한두경부종양학회지
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• 제14권1호
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• pp.20-26
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• 1998

Objectives: Deletion in the short arm of chromosome 3 is common in many human cancers, including sporadic and hereditary renal carcinomas, small cell lung carcinomas, non-small cell lung carcinomas, and carcinomas of the ovary, breast, and cervix. A high frequency of chromosomal aberrations in head and neck cancers involving chromosome 3p has also been reported. These findings suggest that multiple tumor suppressor genes may be present on the short arm of chromosome 3. Materials and Methods: To investigate the possibility of chromosome 3p deletions in the Korean head and neck cancer patients, we applied a polymerase chain reaction(PCR)-based Restriction Fragment Length Polymorphism analysis to the DNA samples of matched normal mucosa and head and neck squamous cell carcinomas from 19 patients. Results: In the 19 normal samples heterozygosity at the polymorphic loci varied: 6 at the D3F15S2 locus(on telomeric 3p21), 2 at the D3S32 locus(on centromeric 3p21), and 4 at the THRB locus(on centromeric 3p24). In 12 matched carcinoma specimens, LOH(loss of heterozygosity) was observed at D3F15S2 in 1 of 6(17%), D3S32 in 1 of 2(50%), and at THRB in 2 of 4 cases(50%). Conclusion: The frequency of chromosome 3p deletion in the Korean head and neck carcinomas appear as other country did.

• Journal of Life Science
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• 제10권2호
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• pp.12-13
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• 2000

A human-specific retroposon SINE-R.C2 has been derived from a human endogenous retrovirus HER V-K 10. It is absent in the genome of nonhuman primates and present within the third intron of the human C2 gene that is located in the class III region of the major histocompatibility complex. In the present study, we determined the regional location of the human C2 gene. The analysis of the Genebridge 4 radiation hybrid mapping panel using PCR amplification located the C2 gene between D6S1422 (10.1 cR) and CHLC.GATA4A03 (21.3) with a lod score of>3.0. This allowed us to localize C2 gene on the human chromosome 6 band p21.31.

• Toxicological Research
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• 제33권4호
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• pp.315-323
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• 2017

Preconceptual sex selection is still a highly debatable process whereby X- and Y-chromosome-bearing spermatozoa are isolated prior to fertilization of the oocyte. Although various separation techniques are available, none can guarantee 100% accuracy. The aim of this study was to separate X- and Y-chromosome-bearing spermatozoa using methods based on the viability difference between the X- and Y-chromosome-bearing spermatozoa. A total of 18 experimental semen samples were used, written consent was obtained from all donors and results were analysed in a blinded fashion. Spermatozoa were exposed to different pH values (5.5, 6.5, 7.5, 8.5, and 9.5), increased temperatures ($37^{\circ}C$, $41^{\circ}C$, and $45^{\circ}C$) and ROS level ($50{\mu}M$, $750{\mu}M$, and $1,000{\mu}M$). The live and dead cell separation was done through a modified swim-up technique. Changes in the sex-chromosome ratio of samples were established by double-label fluorescent in situ hybridization (FISH) before and after processing. The results indicated successful enrichment of X-chromosome-bearing spermatozoa upon incubation in acidic media, increased temperatures, and elevated $H_2O_2$. This study demonstrated the potential role for exploring the physiological differences between X-and Y-chromosome-bearing spermatozoa in the development of preconceptual gender selection.