• Journal of Genetic Medicine
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• v.4 no.1
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• pp.80-83
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• 2007

A 36-year-old pregnant woman was referred for amniocentesis at 19.5 weeks gestation because of advanced maternal age and evidence of increased risk for Edward syndrome in the maternal serum screening test. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 11: 46,XX,r(11)[65]/ 45,XX,-11[16]/ 46,XX [34]. Parental karyotypes were normal. A targeted ultrasound showed intrauterine grow th restriction (IUGR). Cordocentesis was performed to characterize the ring chromosome and to rule out tissue specific mosaicism. Karyotype was confirmed as 46,XX,r(11) (p15.5q24.2)[229]/45,XX,-11[15]. And a few new form of ring w ere detected in this culture. The deletion of subtelomeric regions in the ring chromosome were detected by fluorescent in situ hybridization (FISH). The pregnancy was terminated. The fetal autopsy showed a growth-retarded female fetus with rocker bottom feet. We report a case of prenatally detected a de novo ring chromosome 11.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.160-164
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• 2010

Structural abnormalities of the Y chromosome affect normal testicular differentiation and spermatogenesis. The present case showed a rare monocentric derivative Y chromosome with partial duplication of Yp including the SRY gene and deletion of Yq12 heterochromatin. The karyotype was 46,X,der(Y)(pter${\rightarrow}$q11.23::p11.2${\rightarrow}$pter).ish der(Y)(DYZ3+,DYZ1-,SRY++), confirmed through a FISH study. Even though the patient possessed an abnormal Y chromosome, testicular biopsy showed normal testicular volumes in the proband, with gonadal hormonal levels in the normal range but bilateral varicocele and hypospermatogenesis. We speculate that the abnormal Y chromosome arose from sister chromatids during Y chromosome recombination or intra chromosomal NAHR (non-allelic homologous recombination) during meiosis in the patient's father or in the very early stages of embryogenesis. The derivative Y chromosome might interfere in the meiotic stage of spermatogenesis, leading to the developmental arrest of germ cells. The present case illustrates that the infertility phenotype can have various causes. Also, it emphasizes the importance of accurate and various genetic analyses and could aid in male infertility treatment.

• Korean Journal of Ecology and Environment
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• v.37 no.4 s.109
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• pp.411-422
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• 2004

A limnological survey was conducted in a reservoir, Lake Hoengsung located in Kangwondo, Korea, from July 2000 to September 2001 on the monthly basis. Phosphorus loading from the watershed was estimated by measuring total phosphorus concentration in the main tributary. Secchi disc transparency, epilimnetic (0-5 m) turbidity, chlorophyll a (Chl-a), total phosphorus (TP), total nitrogen(TN) and silica concentration were in the range of 0.9-3.5 m, 0.1-8.5 NTU, 0.3-32.4 mgChl $m^{-3}$, 5-46 mgP $m^{-3}$, 0.83-3.55 mgN $L^{-1}$ and 0.5-9.6 mgSi $L^{-1}$, respectively. Green algae and cyanobacteria dominated phytoplankton community in warm seasons, from July through October, 2000. In July a green alga (Scenedesmus sp.) was dominant with a maximum cell density of 10,480 cells mL. Cyanobacteria (Microcystics sp.) dominated in August and September with cell density of 3,492 and 295 cells mL ,respectively. Species diversity of phytoplankton was highest (2.22) in July. The trophic state of the reservoir can be classified as eutrophic on the basis of TP, Chl-a, and Secchi disc transparency. Because TP concentration was high in flood period, most of phosphorus loading was concentrated in rainy season. TP loading was calculated by multiplying TP and flow rate. The dam managing company measured inflow rate of the reservoir daily, while TP was measured by weekly surveys. TP of unmeasured days was estimated from the empirical relationship of TP and the flow rate of the main tributary; $TP=5.59Q^{0.45}\;(R^2=0.47)$. Annual TP loading was calculated to be 4.45 tP $yr^{-1}$, and the areal P loading was 0.77 gP $m^{-2}\;yr^{-1}$ which is similar to the critical P loading for eutrophication by Vollenweider's phosphorus model, 0.72 gP $m^{-2}\;yr^{-1}$.

• The Korean Journal of Nuclear Medicine
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• v.28 no.2
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• pp.186-191
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• 1994

Tc-99m MIBI, a lipophilic cation, was reported as a useful agent for localization of lung cancer. The effect of radiation therapy on the uptake of Tc-99m MIBI in lung cancer, however, was not well evaluated. The aim of the present study was to elucidate the usefulness of Tc-99m MIBI SPECT in the localization and the assessment of radiotherapy in non-small cell lung cancer. Twenty patients(19 males and 1 female, mean age 59, 16 squamous cell ca and 4 adenoca) were studied with Tc-99m MIBI SPECT before radiation therapy. Eleven patients(10 males and 1 female, mean age 59, 8 squamous cell ca and 3 adenoca) were repeated the study 1 month after the completion of radiation therapy(mean dose 6453cGy). All patients showed positive uptakes of Tc-99m MIBI in their tumors. One patient showed a hot uptake in atelectatic area. There was no difference of Tc-99m MIBI uptakes between squamous cell ca and adenoca either on planar or tomographic images. Tc-99m MIBI uptake ratios of squamous cell ca and adenoca were $1.50{\pm}0.16$ and $1.45{\pm}0.15$ on planar images, and $2.73{\pm}0.46$ and $2.54{\pm}0.37$ on tomographic images, respectively. The concordance between radiological change(chest x-ray and CT) and change of Tc-99m MIBI uptakes was 9/11 (81.8% ). In conclusion, Tc-99m MIBI SPECT was useful in the localization of tumor and the assessment of radiation therapy in non-small cell lung cancer.