• Clinical and Experimental Reproductive Medicine
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• v.26 no.3
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• pp.467-474
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• 1999

Objectives: Cytogenetic investigations were carried out on 770 women with primary (n=560) and secondary amenorrhea (n=210) to determine the frequency of chromosomal or genetic causes of amenorrhea. Materials and Methods: In 770 women with primary amenorrhea (n=560) and secondary amenorrhea (n=210), chromosomal analysis were performed. Results: 1) The most prevalent age group is 16-20 years of age group with primary amenorrhea and 26-30 years of age group with secondary amenorrhea. 2) Out of 560 cases of primary amenorrhea, 343 cases (61.3%) had the normal chromosome constitution and 217 cases (38.7%) had the abnormal chromosome constitution including 46,XY. 3) In 217 cases of abnormal chromosome of primary amenorrhea, 57 cases (26.3%) had 45,X and 34 cases (15.8%) had the 46,XY, 24 cases (11.0%) had 45,X/46,X,i (Xq), 23 cases (10.6%) had 45,X/46,X,+mar and 14 cases (6.6%) had 45,X/46,XY. 4) Out of 210 cases of secondary amenorrhea, 181 cases (86.2%) had the normal chromosome constitution and 29 cases (13.8%) had the abnormal chromosome. 5) In 29 cases of abnormal chromosome of secondary amenorrhea, 7 cases (24.1%) had 45,X/46, X,i (Xq), 4 cases (13.8%) had 45,X/46,XX. Conclusion: High percentage of chromosomal abnormalities was diagnosed in primary amenorrhea and most of them were sex chromosome anomalies. In secondary amenorrhea, the prevalence was lower than primary amenorrhea, so a preselection of patients with secondary amenorrhea for cytogenetic investigations seems to be necessary.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.62-66
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• 2009

Purpose: Chromosomal abnormalities of abortuses have been used to investigate common etiologies of spontaneous abortion, but the frequencies and types of spontaneous abortions have demonstrated considerable variation among different countries and races. Materials and Methods: A cytogenetic analysis of 75 abortuses was performed at GenDix, Inc. from January 2006 to December 2007. Results: The frequency of chromosome abnormalities in abortuses was 32.0% (24/75 cases). Among the chromosomal abnormalities, trisomy was present in 62.5% (15/24 cases) of cases and the most frequent trisomy was trisomy 21 with an occurrence rate of 26.6% (4/15 cases). The following was trisomy 22 (3/15 cases) and trisomy 20 (2/15 cases). The average maternal age for abnormal karyotypes was $34.3{\pm}3.3$. Conclusion: Cytogenetic analysis of abortus is important for diagnosis and genetic counseling of patients with spontaneous abortion.

• Plant Resources
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• v.7 no.1
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• pp.39-46
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• 2004

To demonstrate the importance of transformation efficiency in independent event, molecular and cytogenetic analysis were conducted with genomic DNA and chromosome of transgenic plants produced by Agrobacterium tumefeciens LBA4404 (pSBM-PPGN: gusA and bar). Selection ratios of putative transgenic calli were similar in independent experiments, however, transformation efficiencies were critically influenced by the type of regeneration media. MSRK5SS-Pr regeneration mediun, which contains 5 mgL$^{-1}$ kinetin, 2% (w/v) sucrose in combination with 3% (w/v) sorbitol, and 500 mgL$^{-1}$ proline, was efficient to produce transgenic plant of rice from putative transgenic callus in the presence of L-phosphinotricin (PPT). With MSRK5SS-Pr medium, transformation efficincies of Nagdongbyeo were significantly enhanced from 3.7% to 6.3% in independent callus lines arid from 7.3% to 19.7% in plants produced, respectively. Stable integration and expression of bar gene were confirmed by basta herbicide assay, PCR amplification and Southern blotting of bar gene, and fluorescence in situ hybridization (FISH) analysis using pSBM-PPGN as a probe. In Southern blot analysis, diverse band patterns were observed in total 44 transgenic plants regenerated from 20 independent PPT resistant calli showing from one to five copies of T-DNA segments, however, the transformants obtained from one callus line showed the same copy numbers with the same fractionized band patterns.

• Korean Journal of Medicinal Crop Science
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• v.28 no.5
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• pp.325-330
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• 2020

Background: Dried tuberous roots of Cynanchum wilfordii are known to relieve menopause symptoms. However, the dried roots of C. wilfordii are morphologically similar to those of C. auriculatum, which makes it difficult to distinguish when used as a medicine. Various comparative studies have focused on chemical or molecular analysis of these roots. However, the differences between the two species at the cytogenetic level based on chromosome structure and composition remain to be elucidated. Methods and Results: For chromosome slides, the roots were fixed in 8-hydroxyquinoline, digested with enzyme mixture, and spread on slides. 5S and 45S rDNA were used as cytogenetic markers for the analysis of nuclear genomes by FISH. The chromosome number of the two species was 2n = 22, with a relatively short length, 1.13 ㎛ - 4.24 ㎛ and 1.00 ㎛ - 3.42 ㎛ with respect to each other. Both species represent one pair of 5S and 45S rDNA signal on chromosome 1, at the proximal region and peri-centromeric region, respectively. Conclusions: These preliminary cytogenetic data using FISH in C. wilfordii and C. auriculatum could be valuable for the comprehension of Cynanchum genome history.

• Journal of Genetic Medicine
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• v.12 no.1
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• pp.49-56
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• 2015

We herein report an analysis of a female baby with a de novo dup(10p)/del(10q) chromosomal aberration. A prenatal cytogenetic analysis was performed owing to abnormal ultrasound findings including a choroid plexus cyst, prominent cisterna magna, and a slightly medially displaced stomach. The fetal karyotype showed additional material attached to the terminal region of chromosome 10q. Parental karyotypes were both normal. At birth, the baby showed hypotonia, upslanting palpebral fissures, a nodular back mass, respiratory distress, neonatal jaundice and a suspicious polycystic kidney. We ascertained that the karyotype of the baby was 46,XX,der(10)($pter{\rightarrow}q26.3::p11.2{\rightarrow}pter$) by cytogenetic and molecular cytogenetic analyses including high resolution GTG-and RBG-banding, fluorescence in situ hybridization, comparative genomic hybridization, and short tandem repeat marker analyses. While almost all reported cases of 10p duplication originated from one of the parents with a pericentric inversion, our case is extraordinarily rare as the de novo dup(10p)/del(10q) presumably originated from a rearrangement at the premeiotic stage of the parental germ cell or from parental germline mosaicism.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.30 no.3
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• pp.408-412
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• 1997

The cytogenetic analysis of river puffer, Takifugu obscurus belongs to Family Tetraodontidae, was performed. The chromosome number of T. obscurus was 44 and the fundamental number was 64. Heteromorphic sex chromosomes were not found. The mean cellular size and nuclear size were $11.01\times7.95{\mu}m$ and $4.05\times3.15{\mu}m$, respectively. The mean surface area and volume in cell and nucleus were $68.76{\mu}m^2\;and\;366.00{\mu}m^3,\;10.06{\mu}m^2\;and\;21.36{\mu}m^3$, respectively. The number of erythrocyte of both female and male was $12\~13\times10^5/m\ell$. Gill tissues from diploid individuals had cells with one or two nucleoli. These cytogenetic studies should be used for cytotaxonomy and as a valuable estimation of polyploidy to come in T. obscurus.

• Journal of Life Science
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• v.10 no.1
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• pp.48-50
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• 2000

The cytogenetic pattern of autosome and sex chromiosome after Giemas staining were examined in the hybrids between two sibling species, Drosophila melanogaster and D. simulans. The analysis of karyotype in the hybrid female between D. melanogaster females and D. simulans males could be easily distinguished the characteriation of eight chromosomes from bothe species, especially with regard to X chromosomes. The lagging duplication of Y chromosome was investigated in the interspecific hybrid males from the cross between female of Drosophila melanogaster(OR) and males of D. simulasn (K18). On the other hand, the X chromatids of D. simulans were loosely separated in the early stage of anaphase.

• Development and Reproduction
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• v.22 no.2
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• pp.199-203
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• 2018

Although trisomy 16 is commonly detected in spontaneous abortions and accounts for over 30% of cases of autosomal trisomy detected after spontaneous abortion, trisomy 16 mosaicism is rarely detected by amniocentesis in the second trimester. Here, we report a case of level III trisomy 16 mosaicism (47,XX,+16[8]/46,XX[31]) diagnosed by cytogenetic analysis of independently cultured amniotic fluid cells. The female baby was delivered at full term with low birth weight and intrauterine growth retardation, and interestingly, her karyotype was normal (46,XX). Given the difficulty in predicting the outcomes of fetuses with this mosaicism, it is recommended to inform the possibility of mosaicisms including this trisomy 16 mosaicism during prenatal genetic diagnosis and genetic counseling for parents.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.47 no.4
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• pp.431-434
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• 2014

Cytogenetic analysis was conducted to obtain basic information for chromosome manipulation of starry flounder Platichthys stellatus. Nuclear surface area and volume of erythrocyte were $7.60{\pm}0.93{\mu}m^2$ and $12.80{\pm}1.75{\mu}m^3$, respectively. The haploid DNA content of the species was 0.66 pg/haploid cell which correspond to 93% of olive flounder Paralichthys olivaceus. A karyotype analysis was also carried out with the species using conventional staining and Ag-NOR banding techniques. It was consisted of 48 acrocentric chromosomes and inter-sex or intra-individual polymorphism was not detected in all specimens analyzed. The NOR regions, appearing a terminal position of the short arm of the smallest acrocentric pairs.

• Proceedings of the Zoological Society Korea Conference
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• 2001.10a
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• pp.252.2-252
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• 2001

No Abstract, See Full Text