• Journal of Genetic Medicine
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• v.3 no.1
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• pp.21-24
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• 1999

To study the X chromesome mosaicism in the cytogenetically pure 45,X Turner syndrome patients, we applied PCR technique using DNAs extracted from archived cytogenetic slides. We amplified the DNAs using nested primers targeted to a highly polymorphic short tandem repeat(STR) of the human androgen receptor gene(HUMARA) for the detection of X chromosome mosaicism. This assay is a very sensitive and useful method which can be applied to the DNAs extracted from archived cytogenetic slides to detect X mosaicism. We have tested 50 normal Korean females to determine whether the HUMARA locus is highly polymorphic among Koreans. 85% of Korean population showed heterozygosity in the HUMARA locus. We analysed the 24 DNAs extracted from archived slides of patients and abortuses with Turner syndrome in cytogenetic analysis. We observed the heterozygosities of 50% from pure 45,X patients, 83% from the patients with mosaic Turner syndrome and 8.3% from the abortuses of pure 45,X. Using the PCR technique of the HUMARA locus in the archived cytogenetic slides, we detected X chromosome mosaicism which could not be detected in cytogenetic analysis.

• Childhood Kidney Diseases
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• v.1 no.2
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• pp.151-154
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• 1997

Purpose : The prevalence of renal malformation in Turner syndrome has been quoted as being greater than 50% in older series. Recently in 1988, Lippe's review gave a prevalence of 33%, significantly lower than all previous reports. In 1996, Flynn reported that renal malformation occurs in approximately 24% of all girls with Turner syndrome, and that it is seldom seen in girls with mosaic karyotype who form the predominant subgroup. The aim of this study was to evaluate prevalence of renal malformation by karyotype in Turner syndrome in Korea. Method : We evaluated 81 patients with Turner sundrome diagnosed in Yonsei University from Jan. 1987 to Dec. 1996. The patient entered in this study were those for whom both karyotype and ultrasound examination of the kidney were available. Result : 1) The karyotype showed: 45,X ; 29 cases (38%), mosaicism : 32 cases (40%), structural aberration ; 17 cases (22%). 2) Of the 29 cases of pure 45,X karyotype, 5(17%) had abnormal renal findings, while these were found in only 1 of the 30 mosaic cases(3.3%), and in 1 of the 17 structural aberration cases(6%). The malformation included 3 cases of horseshoe kidney, 2 cases of axial malrotation, hypoplastic kidney and simple cyst each one. There was no statistical significance between 3 groups (p=0.09). Conclusion : We conclude that renal malformation occurs in 9.2% in this study, therefore Korean girls with Turner syndrome have lower rates of renal malformation.

• Korean Journal of Clinical Laboratory Science
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• v.36 no.2
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• pp.205-209
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• 2004

This study was carried out to review and evaluate a total of 2,463 cases of human chromosomal analysis at Kwangju Christian Hospital from 1974 to 2004. We collected 2.0-3.0ml of human peripheral blood in heparized bottle. Then, we cultured it for 72 hours. We performed GTG-banding and chromosomal kayotyping analysis by Cytovision kayotyping system. Abnormal karyotypes were observed in 30.5% of the total cases (750/2,463). Autosome and sex chromosome anomalies were observed in 25.8% (635/2,463) and 4.7% (115/2,463) respectively. In a total of 2463 cases, there were 522 (22.4%) cases of Down's syndrome karyotype, and 67 (2.7%) cases of Turner syndrome. In conclusion, Down's syndrome has decreased after the end of the 1990s, but other (Turner syndrome et al.) chromosomal abnormal cases haven't decreased after the1970s.

• Clinical and Experimental Reproductive Medicine
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• v.12 no.1
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• pp.99-108
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• 1985

The purpose of this study is to investigate .the cytogenetic characteristics of the Turner's syndrome in Korea. For this study selected were eighty-two patients with Turner's syndrome, who were diagnosed by the chromosomal analyses of the cultured peripheral blood lymphocytes, at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, College of Medicine, Seoul National University, for the period of 11 years and 6 months from May 1971 through November 1982. Among the 82 patients with Turner's syndrome, 21 (25.6%) had 45,X karyotype, 57 (69.4%) had mosaicism of 45,X/46,XX (39), 45, X/46, XX/47, XXX (9), 45, X/47, XXX (5), 45, X/46, XY (4). Remaining 4 patients had 46, $XX_{p-}$, 46, $XX_{q-}$and 46,X,i($X_q$), respectively.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.121-124
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• 2016

Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.

• Proceedings of the PSK Conference
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• 2002.04a
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• pp.127.2-128
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• 2002

• Clinical and Experimental Reproductive Medicine
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• v.9 no.1_2
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• pp.79-93
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• 1982

We collected a total of 109 patients with intersex during the past 16 years (1966-1982). They were summerized as follows: Klinefelter's syndrome, the most common disease, was found in 76 cases, Turner's syndrome in 3 cases, true hermaphroditism in 5 cases, male pseudohermaphroditism in 5 cases, female pseudohermaphroditism in 13 cases and others in 7 cases in which 2 cases of XX male syndrome, 1 case of agonadism, 1 case of hernia uteri inguinale and 3 cases of unclassified intersex were included. 2 mosaic Klinefelter's syndrome showed 46/47 XX/XXY and 1 mosaic Turner's syndrome showed 45/46 XO/XX. The 5 patients with true hermaphroditism included 2 cases that had an ovary on one side and a testis on the other, 1 case, seperate ovary and testis on each side, 1 case, an ovary on one side and a seperate testis and ovary on the other and 1 case, an ovary on one side and an ovotestis on the other. Sex chromosome study on the true hermaphroditism revealed 46 XX in 2 patients and 46/46 XX/XY mosaicism in 3 patients. In male pseudohermaphroditism, all patients had a short and blind vagina. Of which, familial tendency was found in 1 case. Her sister had operation for sex reversal for female. In female psedohermaphroditism, all the patients were adrenogenital syndrome. Operations for clitoridectomy and vaginoplasty were performed on 10 patients. Hydrocortisone was given to 6 patients. Menstruation started to occur 6 months and 4 months after the medical therapy respectively in 2 cases.

• Journal of Chest Surgery
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• v.55 no.5
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• pp.413-416
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• 2022

A 32-year-old woman diagnosed with Turner syndrome presented to the hospital for an evaluation of cardiovascular complications. Preoperative computed tomography (CT) and echocardiography showed progression of aortic root and ascending aorta dilatation, as well as a bicuspid aortic valve. There was no evidence of aortic regurgitation. We planned valve-sparing aortic root replacement and ascending aorta replacement with a high risk of aortic rupture. Intraoperatively, we incidentally found a juxtacommissural origin of the right coronary artery (RCA). We performed aortic valve reimplantation using a graft designed with a key-shaped hole to wrap the juxtacommissural-origin RCA by modifying the Florida sleeve technique. Coronary blood flow was patent on postoperative CT angiography, and there was no evidence of aortic regurgitation on postoperative echocardiography. The patient was discharged from the hospital on postoperative day 7 without any complications.

• Korean Journal of Clinical Laboratory Science
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• v.42 no.3
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• pp.111-115
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• 2010

A 15-year-old female with primary amenorrhea and Tuner's syndrome feature was referred for a chromosome analysis. The karyotype of the patient was 45,X/46,X,der(Y) mosaicism under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with probe for CEP X probes and SRY probe (Vysis, Inc. Downers Grove, IL 60515, USA) was carried out. This probe is direct labeled with SpectrumOrange (SRY, Yp11.3) and is available as a single probe or mixed with the CEP X SpectrumGreen probe. SRY SpectrumOrange/CEP X SpectrumGreen hybridized to a specimen obtained from an two isodicentric Y chromosomes. The karyotype of the patient was ish Xcen(DXZ1x1)/Xcen(DXZ1x1), Yp11.3(SRYx2) by using FISH. This karyotype was considered a variant of Tuner syndrome with mixed gonadal dysgenesis (MGD), male pseudohermaphroitism (MPH) and apparently normal male.

• Journal of Chest Surgery
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• v.34 no.7
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• pp.552-555
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• 2001

Noonan syndrome is characterized by a Turner-like phenotype and a normal karyotype associated with congenital abnormalities, such as short stature, variable mental retardation, hypertelorism, webbed neck, low posterior hair line, skeletal malformation and congenital cardiovascular defect. Two third of Noonan syndrome have cardiac anormalies, half with pulmonary stenosis. We have experienced two cases of pulmonary stenosis associated with other cardiac anomalies in Noonan syndrome. The first 31-year-old male patient had characteristic appearance of Noonan syndrome with severe infundibular pulmonic stenosis and patent foramen ovate. The second 28-year-old male patient had valvular and subvalvular Pulmonary stenosis with typical Noonan\`s face and stature. Pulmonary valvotomy and hypertrophied muscle bundles in the right ventricular cavity were resected in both cases. Patent foramen ovate was closed directly in the first case. Postoperative follow-up examinations revealed no symptoms and successful outcome.