• Clinical and Experimental Pediatrics
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• v.50 no.9
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• pp.875-881
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• 2007

Purpose : Chromosome analysis is important in genetic study and genetic counseling. This study was performed to evaluate the type and incidence of chromosome abnormalities in a single hospital for 25 years. Methods : Chromosome analyses were performed on peripheral blood lymphocytes, obtained from 4,856 patients with suspected chromosomal aberrations, referred to cytogenetic laboratory in Department of Pediatrics, Kyungpook National University Hospital from May 1981 to October 2005. Results : We analyzed 4,567 cases. Children were 3,014 cases (66.0%) and adult were 1,553 cases (34.0 %). The most common purpose of the chromosomal analysis was growth and developmental abnormality in children and infertility in adults. Total chromosomal aberration rate was 16.9% (770/4,567). Among those cases, the numerical abnormalities were 12.2% (558 cases), the structural abnormalities were 4.1% (187 cases), and others were 0.5% (25 cases). The relative frequencies of autosomal abnormalities were 6.4% (294 cases) in Down syndrome; 0.2% (7 cases) in Edwards syndrome; 0.1% (4 cases) in Patau syndrome; 0.2% (10 cases) in other abnormalities, of sex chromosome, 2.9% (131 cases) in Klinefelter syndrome; 2.2% (99 cases) in Turner syndrome; 0.2% (8 cases) in 47, XXX; 0.1% (3 cases) in 47, XYY. Among the structural abnormalities, translocation was 1.8% (84 cases), inversion was 0.8% (37 cases), deletion was 0.4% (17 cases), and insertion was 0.3% (13 cases), in order of frequency. Conclusion : In this study, the type, incidence and distribution of cytogenetic abnormalities by karyotype were reviewed. We hope that our study could be used as a basic information on the diagnosis, treatment and genetic counseling for chromosome abnormalities in Korea.

• Journal of Genetic Medicine
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• v.15 no.1
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• pp.43-47
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• 2018

Partial hydatidiform mole and coexisting fetus is a rare entity with antecedent high risk of maternal and fetal complications, and risk of persistent trophoblastic disease in later life. Here, we report a case of twin pregnancy with live fetus identified as 45,X and normal placenta and another partial mole. Ultrasound scan at 10 weeks showed a hydrops fetus with a focal area of multicystic placenta. The patient underwent chorionic villus sampling and amniocentesis for chromosomal analysis, and the result was 45,X. Based on these finding, the patient then underwent induced abortion. Pathological examination (immunohistochemical staining) of the placenta confirmed the partial mole. This report suggests that careful prenatal ultrasonography and appropriate karyotyping in a molar pregnancy and coexisting fetus enable early diagnosis and may be beneficial for prognosis.

• The Journal of the Korean life insurance medical association
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• v.29 no.2
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• pp.29-32
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• 2010

Moyamoya disease (MMD) is a progressive occlusive disease of the cerebral vasculature with particular involvement of the circle of Willis and the arteries that feed it. MMD is one of cerebrovacular accident,which is treated with sugical maeuver in pediatic neurosurgery. Moyamoya (ie, Japanese for "puff of smoke") characterizes the appearance on angiography of abnormal vascular collateral networks that develop adjacent to the stenotic vessels. The steno-occlusive areas are usually bilateral, but unilateral involvement does not exclude the diagnosis. The exact etiology of moyamoya disease is unknown. Some genetic predisposition is apparent because it is familial 10% of the time. The disease may be hereditary and multifactorial. It may occur by itself in a previously healthy individual. However, many disease states have been reported in association with moyamoya disease, including the following: 1) Immunological - Graves disease/thyrotoxicosis 2) Infections - Leptospirosis and tuberculosis 3) Hematologic disorders - Aplastic anemia, Fanconi anemia, sickle cell anemia, and lupus 4) Congenital syndromes - Apert syndrome, Down syndrome, Marfan syndrome, tuberous sclerosis, Turner syndrome, von Recklinghausen disease, and Hirschsprung disease 5) Vascular diseases - Atherosclerotic disease, coarctation of the aorta and fibromuscular dysplasia, 6)cranial trauma, radiation injury, parasellar tumors, and hypertension etc. These associations may not necessarily be causative but do warrant consideration due to impact on treatment.(Mainly neurosurgical operation.) The incidence of moyamoya disease is highest in Japan. The prevalence of MMD is 1 person per 100,000 population. The prevalence and incidence of moyamoya disease in Japan has been reported to be 3.16 cases and 0.35 case per 100,000 people, respectively. With regard to sex, the female-to-male ratio is 1.4:1. A bimodal peak of incidence is noted, with symptoms occurring either in the first decade(5-10yr) or in the third and fourth decades (30-40yr)of life. Mortality rates of moyamoya disease are approximately 10% in adults and 4.3% in children. Death is usually from hemorrhage. In aspect of life insurance, MR is 1700%, EDR is 16 per 1000 persons. Children and adults with moyamoya disease (MMD) may have different clinical presentations. The symptoms and clinical course vary widely from asymptomatic to transient events to severe neurologic deficits. Adults experience hemorrhage more commonly; cerebral ischemic events are more common in children. Children may have hemiparesis, monoparesis, sensory impairment, involuntary movements, headaches, dizziness, or seizures. Mental retardation or persistent neurologic deficits may be present. Adults may have symptoms and signs similar to those in children, but intraventricular, subarachnoid, or intracerebral hemorrhage of sudden onset is more common in adults. Recently increasing diagnosis of MMD with MRI, followed by surgical operation is noted. MMD needs to be considered as the "CI" state now in life insurance fields.

• Clinical and Experimental Reproductive Medicine
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• v.10 no.2
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• pp.25-37
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• 1983

As the cytogenetic developed, cytogenetic study has also developed progressively. This study is a systematical cytogenetic and clinico-hormonal analysis of 20 cases Wp.ere gonadal dysgenesis was diagnosed and deferred to the Dept. of obstetrics and Gynecology, Yonsei University, Medical School from Jan. 1974 to Aug. 1983. Twenty patients with the diagnosis of gonada dysgenesis have been assesed as to possible correlations between clinical, homonal and cytogenic findings. The desults were as follows; l. Gonadal dysgenesis were found in 20 cases, consisting of 15 cases (75%) of turnurs syndrome, 4 case of pure gonadal dysgenesis (20%), 46. XX and 1 case of mixed gonadal dysgenesis, 45,XO/46,XY. 2. Patients with XO karyotype, turner's ryndorme, have a resonably constant clinical picture of sexual infantilism with streak gonads, short status and webbed neck. 3. 17 cases were found primary amenorhea and two cases were noted with 2 ndary amenorrhea. one case has been presented with menstruation. 4. The rudimentary streak gonads were found in 7 cases of 8 cases and one case has a rudimentary streak gonad on one side and a testis on the contralateral side. 5. The study showed that potients with gonadal dysgenesis had an average of about 4-8 times higher basal FSH and about 3-7 times higher basal LH than that of the early follicular phase of normal menstrual cycle. 6. Two cases of three gonadal dysgenesis patieats, who performed LH-RH challage test, showed that the serum FSH levels reached the maximal level at 30 min after injection of CHRH and the serum LH level reached the maximal level at 60 min ofter injection of LHRH one case showed no significant response to LH-RH injection. Thus, bu studying simultoneously the clinical, cytogenic, hormonal aspects and visualization of gonads, we have gained some practical insight into the requirements for proper disgnosis and treatment.

• Journal of Preventive Medicine and Public Health
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• v.54 no.3
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• pp.161-165
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• 2021

Objectives: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spreads heterogeneously, disproportionately impacting poor and minority communities. The relationship between poverty and race is complex, with a diverse set of structural and systemic factors driving higher rates of poverty among minority populations. The factors that specifically contribute to the disproportionate rates of SARS-CoV-2 infection, however, are not clearly understood. Methods: We evaluated SARS-CoV-2 test results from community-based testing sites in Los Angeles, California, between June and December, 2020. We used tester zip code data to link those results with United States Census report data on average annual household income, rates of healthcare coverage, and employment status by zip code. Results: We analyzed 2 141 127 SARS-CoV-2 test results, of which 245 154 (11.4%) were positive. Multivariable modeling showed a higher likelihood of SARS-CoV-2 test positivity among Hispanic communities than among other races. We found an increased risk for SARS-CoV-2 positivity among individuals from zip codes with an average annual household income

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.10-14
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• 2019

Purpose: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. Materials and Methods: This was a retrospective study of POI patients with chromosomal abnormalities diagnosed between January 2009 and December 2017. The definition of POI is based on hypergonadotropinism of 40 or greater in follicle stimulating hormone (FSH) measurements at age 40 years or less. FSH was measured twice at least 4 weeks apart. Karyotyping using peripheral blood for chromosomal testing was conducted in all patients diagnosed with POI. We analyzed the clinical characteristics and genetic causes of patients who were diagnosed with POI. Results: Forty patients were diagnosed with POI including 9 (22.5%) with identified chromosomal abnormalities. The mean age at diagnosis was $23.1{\pm}7.8years$ (ranging between 14 and 39). Three patients did not experience menarche. The presenting complaints were short stature in one case, one case of amenorrhea with ambiguous external genitals, one case of infertility, and six related to menstruation such as oligomenorrhea or irregular rhythm. Turner syndrome was diagnosed in four cases, Xq deletion in one case, trisomy X in two cases, and 46,XY disorder of sexual development in two other patients. Conclusion: Patients diagnosed with POI carrying the same type of chromosomal abnormality manifest different phenotypes. The management protocol also needs to be changed depending on the diagnosis. A karyotype is indicated for accurate diagnosis and proper management of POI in patients, with or without stigmata of chromosomal abnormalities.

• Clinical and Experimental Reproductive Medicine
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• v.50 no.3
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• pp.192-199
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• 2023

Objective: This study was conducted to investigate chromosomal abnormalities and their correlations with clinical and radiological findings in females with primary amenorrhea (PA). Methods: Detailed forms were recorded for 470 females, including the construction of three-generation pedigrees. Peripheral venous blood was drawn, with informed consent, for cytogenetic analysis. Results: An abnormal karyotype was found in 16.38% of participants. The incidence of structural abnormalities (6.8%) exceeded that of numerical abnormalities (6.15%). Turner syndrome represented 45% of all numerical abnormalities. Furthermore, the Y chromosome was detected in 5% of females with PA. Among the structural chromosomal abnormalities detected (n=32) were mosaicism (25%), deletions (12.5%), isochromosomes (18.75%), fragile sites (3.12%), derivatives (3.12%), marker chromosomes (3.12%), and normal variants (29.125%). An examination of secondary sexual characteristics revealed that 29.6% of females had a complete absence of breast development, 29.78% lacked pubic hair, and 36.88% exhibited no axillary hair development. Radiological findings revealed that 51.22% of females had a hypoplastic uterus and 26.66% had a completely absent uterus. Abnormal ovarian development, such as the complete absence of both ovaries, absence of one ovary, one absent and other streak, or both streak ovaries, was observed in 69.47% of females with PA. Additionally 43.1%, 36.1%, 67.4%, and 8% of females had elevated levels of serum follicle-stimulating hormone, luteinizing hormone, thyroid-stimulating hormone, and prolactin, respectively. Conclusion: This study underscores the importance of karyotyping as a fundamental diagnostic tool for assessing PA. The cytogenetic correlation with these profiles will aid in genetic counseling and further management of the condition.

• Radiation Oncology Journal
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• v.15 no.4
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• pp.379-385
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• 1997

Purpose : Ovarian dysgerminoma is a highly radiosensitive malignant tumor occurring in young age group. The conventional treatment was total abdominal hysterectomy and bilateral salpingo-oophorectomy followed by radiotherapy. We retrospectively analyzed the treatment results of Patients who had received radiotherapy in the era before chemotherapy was widely used. Material and Method : Twenty two patients with ovarian dysgerminoma were treated at the Department of Therapeutic Radiology, Seoul National University Hospital between August, 1980 and May, 1991. Four patients were excluded from this study, because three patients received incomplete treatment and one received combined chemotherapy. Sixteen patients received postoperative radiotherapy and two patients had radical radiotherapy as tumor was unresectable. Median follow-up period was 99 months (range, 51-178) Median age was 22 years (range, 11-42). Among the postoperatively treated patients, three Patients were in stage IA, eight in stage IC, two in stage II, and three in stage III. One patient had Turner's syndrome. Radiotherapy was performed with high energy photon (telecobalt unit or linear accelerator, either 6MV or 10MV), The radiation dose to the whole abdomen was 1950-2100cGy (median, 2000) and 1050-2520cGy was added to the whole pelvis, the total dose to the whole pelvis was 3000-4500cGy (median, 3500). Prophylactic Paraaortic area irradiation was done in six Patients (dose range, 900-1500cGy). One patient who had positive Paraaortic node, received radiation dose of 1620cGy, followed by additional 900cGy to the gross mass with shrinking field. Total dose to the paraaortic node was 4470cGy. Six patients, including one who had paraaortic node metastasis, received Prophylactic irradiation to mediastinum and supraclavicular area (2520cGy). Of the two patients with unresectable tumors who received radical radiotherapy, one was in stage III and the other was in stage IV with left supraclavicular lymph node metastasis. The stage III patient received radiation to the whole abdomen (2000cGy), followed by boost to whole pelvis (2070cGy) and paraaortic area (2450cGy). Stage IV patient received radiation to the whole abdomen (2000cGy), followed by radiation to the whole pelvis and paraaortic area (2400cGy), mediastinum (2520cGy) , and left supraclavicular area (3550cGy) .Results : The 5 year local control rate was $100\%$ in patients who received postoperative adiuvant radiotherapy after total abdominal hysterectomy and bilateral salpingo-oophorectomy. Only one patient in stage III who did not receive prophylactic irradiation to mediastinum developed mediastinal metastasis. but was salvaged by chemotherapy. So. the 5 year overall survival rate uras also $100\%$. Two patients who received radiation only, are alive without disease at 112 and 155 months. Conclusion : Postoperntive adjuvant radiotherapy as well as radical radiotherapy in unresectable ovarian dysgerminoma was very effective. aut chemotherapy is also an effective treatment modality We now recomrneifd chemotherapy for Patients who need to save their ovarian functien and reserve radiotherapv fov chemo-resistant tumor or recurrence alter che motherapy.

• Clinical and Experimental Reproductive Medicine
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• v.33 no.3
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• pp.179-187
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• 2006

Objectives: The risk of aneuploidies of embryos increases in advanced maternal age or parental karyotype abnormality and it results in poor reproductive outcomes such as recurrent spontaneous abortion (RSA) or repeated implantation failure (RIF). Preimplantation genetic diagnosis for aneuploidy screening (PGD-AS) can be applied for better ART outcome by selecting chromosomally normal embryos. The aim of this study is to evaluate the clinical outcome of PGD-AS and which group can get much benefit from PGD-AS among the patients expected to have poor reproductive outcome. Methods: In 42 patients, 77 PGD cycles were performed for aneuploidy screening. Patients were allocated to 3 groups according to the indication of PGD-AS: group I-patients with old age (${\geq}37$) and RIF more than 3 times (n=11, mean age=42.2 yrs.), group II-patients with RSA (${\geq}3$ times) associated with aneuploid pregnancy (n=19, mean age=38.9 yrs.), group III-parental sex chromosome abnormality or mosaicism (n=18, mean age=29.6 yrs.) including Turner syndrome, Klinefelter syndrome and 47, XYY. PGD was performed by using FISH for chromosome 13, 16, 18, 21, X and Y in group I and II, and chromosome X, Y and 18 (or 17) in group III. Results: Blastomere biopsy was successful in 530 embryos and FISH efficiency was 92.3%. The proportions of transferable embryos in each group were $32.5{\pm}17.5%$, $23.0{\pm}21.7%$ and $52.6{\pm}29.2%$ (mean ${\pm}$ SD), respectively, showing higher normal rate in group III (group II vs. III, p<0.05). The numbers of transferred embryos in each group were $3.9{\pm}1.5$, $1.9{\pm}1.1$ and $3.1{\pm}1.4$ (mean ${\pm}$ SD), respectively. The clinical pregnancy rates per transfer was 0%, 30.0% and 20.0%, and it was significantly higher in group II (group I vs. group II, p<0.05). The overall pregnancy rate per transfer was 19.6% (10/51) and the spontaneous abortion rate was 20% (2/10) of which karyotypes were euploid. Nine healthy babies (one twin pregnancy) were born with normal karyotype confirmed on amniocentesis. Conclusion: Our data suggests that PGD-AS provides advantages in patients with RSA associated with aneuploidy or sex chromosome abnormality, decreasing abortion rate and increasing ongoing pregnancy rate. It is not likely to be beneficial in RIF group due to other detrimental factors involved in implantation.