Turner syndrome is the most common gender chromosome abnormalities. The sooner treatment have the more effective it is. Objectives: 1. Analysing clinical characteristics of patients with Turner syndrome; 2. Analysing characteristics chromosomes and Barr bodies of patients with Turner syndrome. Methods: 38 females patients were analysed for chromosomes and Barr bodies at the Department of Medical Biology and Genetics-Hanoi Medical University. Results: Clinical characteristics: 29/38 patients at ages >=13; 37/38 patients have short stature; 29/29 patients (ages >=13) have short stature, sexual infantilism and lack of secondary sexual characteristics; 12/12 patients (ages >18) who are in primary amenorrhea. Cytogenetics: 20/38 patients have karyotype 45,X; Barr body (-); 3/38: 46,X,i(Xq); Barr bodies (+). 15/38 patients have Turner syndrome mosaicism: 45,x/46,XX; 45,x/47,XXX; 45,x/46,X,i(Xq); 45,x/46,XY. Conclusion: Almost pattients were diagnosed Turner syndrome after the age of puberty. Types of karyotype: 20/38 patients: 45,X; 3/38: 46,X,i(Xq); 15/38: Turner syndrome mosaicism with 2 cell lines: 1 line is 45,X and the other is either normal or abnormal.
Turner Syndrome, Cytogenetics

No abstract available.
Cytogenetics* ; Turner Syndrome*

PURPOSE: The prevalence of renal anomalies in Turner syndrome (TS) has been reported varies from 33% to 60%. In order to clarify the true incidence of renal malformations in Korean TS, and the incidence of renal anomalies according to the karyotype, we have a plan to study this subject. METHODS: We evaluated 51 patients with TS diagnosed by karyotype in Inje University Busan Paik Hospital and Youngnam University from January 1995 to March 2005. The study population was divided into two groups according to the cytogenetic results as classic group (45,X karyotype) and variant group (mosaicism and structural aberration). RESULTS: Of the 51 patients, the karyotype showed 45,X in 26 (51.0%) patients, mosaicism in 17 (33.3 %) patients and structural aberration in 8 (15.7%) patients. Of the 26 patients with 45,X karotype, 12 (46.2%) had renal anomalies, while these were found in 7 (28.0%) of the 25 patients with mosaicism/ structural aberration. The renal anomalies included 9 cases of horseshoe kidney, 7 cases of abnormal renal collecting system, 2 cases of single kidney and 1 case of malrotation. CONCLUSION: The incidence of renal anomalies in Korean TS was 37.3%. The incidence of renal anomalies of the patients with 45,X karotype was higher than that of the patients with mosaicism/structural aberration, but the difference was not statistically significant. We recommend that renal ultrasonography or IVP for investigation of renal anomalies should be done as a screening procedure for the better quality of life in patients with TS.
Busan ; Child* ; Cytogenetics ; Humans ; Incidence* ; Karyotype* ; Kidney ; Mass Screening ; Mosaicism ; Prevalence ; Quality of Life ; Turner Syndrome* ; Ultrasonography

To study the X chromesome masaicism 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 cytohenetic slides to detect X mosaicism. We have tested 50 normal Korean females to determine whether the HUMARA locus is highly polumorphic 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 tecjhnique of the HUMARA locus in the archived cytogenetic slides, we detected X chtomosome mosaicsm which could not be detected in cytogenetic analysis.
Cytogenetic Analysis ; Cytogenetics* ; DNA* ; Female ; Humans ; Mosaicism* ; Polymerase Chain Reaction ; Receptors, Androgen ; Turner Syndrome* ; X Chromosome

To evaluate the significance of placental histology, a collaborative histological and cytogenetic study was performed on the products of 88 spontaneous abortions, and subsequently bcl-2 immunostaining was performed on 62 cases. The morphometric parameters included were DCIRCLE, FORMSHAPE, CPRATIO, and the expression of bcl-2 immunostainig was graded in four categories (I to IV). The results were as follows: 1) 40% (n=35) were chromosomally abnormal: trisomies predominated (57%, n=20) and was followed by triploidy (14%, n=5), double trisomy (6%, n=2), monosomy X (6%, n=2), inversion (9) (6%, n=2). 2) mean of DCIRCLE in chromosomally abnormal pregnancy was 40 micrometer larger than that in chromosomally normal pregnancy (p=0.012, one side t-test), while no difference was found in FORMSHAPE and CPRATIO between chromosomally abnormal and normal pregnancy. 3) bcl-2 expression was found in syncytiotrophoblast and cytotrophoblast. bcl-2 expression was weaker in chromosomally abnormal pregnancy with intensity I and II of 59% than chromosomally normal pregnancy with intensity I and II of 24%. 4) In comparison bcl-2 expression with DCIRCLE, in chromosomally normal abortion one (10%) in I & II and one (3%) in III & IV showed large DCIRCLE (above 360 micrometer), while 11 (85%) in I & II and 3 (33%) in III & IV in chromosomally abnormal pregnancy. It would mean that bcl-2 protein is necessary in preservation of pregnancy and placental morphology. Abnormal villous diameter and weak bcl-2 expression may be suggestive of chromosomal anomaly. Besides other histologic parameters, application of bcl-2 immunostaining and morphometric analysis probably give more sensitive and specific results in identifying chromosomally abnormal abortion.
Abortion, Spontaneous ; Cytogenetics ; Female ; Humans ; Placenta* ; Pregnancy* ; Triploidy ; Trisomy ; Trophoblasts ; Turner Syndrome

OBJECTIVE: To identify cytogenetic diversity of Turner syndrome, and its correlation with clinical manifestation including fertility. METHOD: From 1986 to 1996, we reviewed medical records of 137 patients, cytogenetically and clinically diagnosed as Turner syndrome. Cytogenetic study was performed using peripheral lymphocytes with GTG banding. Marker chromosomes were re-evaluated by quinacrine staining. RESULTS: Overall incidence of mosaic pattern was 57.7% in Turner syndrome, showing 45,X line combined with structural anomalies of X chromosome(n=39), marker chromosome(n=22), numerical abnormalities of sex chromosome(n=6), and 46,XX(n=5). With comparison of clinical manifestation in 45,X/46,XX(n=5) and four most common pattern, 45,X(n=42), 45,X/46,X,i(Xq)(n=26), 45,X/46,X,+mar(n=22), 46,X,i(Xq)(n=9), there was no significant differences statistically, except short stature and diabetes. Incidence of short stature was significantly higher in 45,X or 46,X,i(Xq) than 45,X/46,XX(78.6%, 88.9%, 20.0%), and significant difference existed in incidence of diabetes between 45,X and 46,X,i(Xq)(0%, 22.2%). Sixteen patients had a history of marriage, but only one had a history of spontaneous conception and delivery with mosaic 45,X[2]/51,XXXXXXX[1]/46,XX[47]. CONCLUSION: The karyotypes of Turner syndrome was very variable, and about 60% had mosaicism. Patients with 45,X/46,XX had a significant lower incidence of short stature than in 45,X or 46,X,i(Xq), and 46,X,i(Xq) had a significant higher incidence of diabetes than in 45,X. We identified a woman with mosaic 45,X/51,XXXXXXX/46,XX was fertile.
Cytogenetics* ; Female ; Fertility ; Fertilization ; Humans ; Incidence ; Karyotype ; Lymphocytes ; Marriage ; Medical Records ; Mosaicism ; Quinacrine ; Turner Syndrome*

The purpose of this study was to determine the frequency of chromosomal or genetic causes of primary amenorrhea, and was made to assess the etiology of disorders in those patients whose chromosome appeared normal. Sixty eight patients with primary amenorrhea were evaluated clinically and cytogenetically, which were refered to our Cytogenetic Laboratory in Department of Obstetrics and Gynecology, Pusan National University Hospital, from Aug. 1988 to Dec. 1996. The results were as follows. l. Out of 68 cases with primary amenorrhea, 40 cases (58.9%) had the normal chromosome constitutions and 28 cases (41.1%) had the abnormal chromosome constitutions including 46, XY. 2. Turner's syndrome was found in 25 cases (36.7%), consisting of 11 cases (16.1%) of 45, X, 3 cases (4.3%) of 46, X, i (Xq), 1 case (1.5%) of 46, X, inv (X), 1 case (1.5%) of 46, X, del (Xq), 1 case (1.5%) of 46, X, del (Xp), 1 case (1.5%) of 46, X, tel (Xq), 1 case (1.5%) of 45, X/46, XX, 1 case (1.5%) of 45, X/46, XY, 1 case (1.5%) of 45, X/47, XXX, 2 cases (2.9%) of 45, X/46, X, del (Xq), I case (1.5%) of 45, X/46, X, del (Xq), 1 case (1.5%) of 45, X/46, X, r (X). 3. 3 cases (4.3%) had the 46, XY chromosome constitution consisting of 2 cases (2.9%) of testicular feminization syndrome and 1 case (1.5%) of pure gonadal dysgenesis. 4. Among 40 patients whose chromosome are normal, the etiologies of amenorrhea were assumed to be caused by 11 cases (27.5%) of hypogonadotropic hypogonadism (idiopathic), 10 cases (25.0%) of congenital absence of vagina, 5 cases (12.5%) of pure gonadal dysgenesis in order of frequency.
Amenorrhea* ; Androgen-Insensitivity Syndrome ; Busan ; Constitution and Bylaws ; Cytogenetics* ; Female ; Gonadal Dysgenesis ; Gynecology ; Humans ; Hypogonadism ; Male ; Obstetrics ; Turner Syndrome ; Vagina

BACKGROUND: In patients with Turner syndrome, it is known that the presence of Y-specific sequence is correlated with the risk of gonadoblastoma development. Y-specific sequence are frequently present in marker chromsome which can not be easily identified by cytogenetic method, because it is very small in size and unstable during mitosis. So, in this study, karyotype of 30 patients with Turner syndrome analyzed by cytogenetic method and the presence of Y-specific sequence was identified by polymerase chain reaction (PCR). METHODS: Cytogenetic analysis was performed by Phytohemaggulutinin (PHA)-stimulated lymphocyte culture and G-banding by Wright stain without trypsin treatment. Four Y-specific sequences were amplified by PCR using specific primer for Sex determination on Y (SRY), Ameglonin like gene (AMGL), Y1.1-1.2 repeat sequence (Y1.1-1.2) and B fragment of DYZ1 (DYZ1-B). DNAs for PCR analysis were extracted from peripheral blood lymphocytes of preserved cell pellets which were harvested for cytogenetic analysis. RESULTS: Cytogenetic analysis revealed various karyotypes in Turner syndrome such as 45,X, 46,X,i(X)(q10), 46,X,del(X) including four cases of 46,X,+mar and three cases of 46,X,+r. It is could not identify Y-chromosome in this 30 patients with Turner syndrome. By PCR, three patients (10%) with Turner syndrome had at least one Y-specific sequence; one case of 45,X karyotype was amplified in SRY; one case of 45,X[9]/46,X,i(X)(q10)[1]/46,XX[10] was amplified in AMGL, Y1.1-1.2; one case of 46,X,i(X)(q10) was amplified in SRY, AMGL and Y1.1-1.2. None of case was amplified in DYZ1-B. CONCLUSIONS: PCR for amplification of Y-specific sequence was thought to be useful in detection of Y-chromosome, which might be helpful in early diagnosis of gonadoblastoma in patients with Turner syndrome.
Cytogenetic Analysis ; Cytogenetics ; DNA ; Early Diagnosis ; Gonadoblastoma ; Humans ; Karyotype ; Lymphocytes ; Mitosis ; Polymerase Chain Reaction ; Trypsin ; Turner Syndrome*

OBJECTIVE: To make a guideline for cytogenetic study and diagnosis through systematic analysis of types and the incidences of chromosomal abnormalities obtained from various types of congenital disorder in Korea. METHODS: The cytogenetic study was performed on 14,402 patients with suspected chromosomal abnormalities at our genetic laboratory of the medical research center between January 1, 1974 to December 31, 2004 and additionally the FISH (Fluorescence in situ hybridization) study was done on 272 patients between January 1, 1998 to December 31, 2004. RESULTS: Total number of case requiring cytogenetic study were 33 in starting year (1974) and by 1983, the number increased rapidly to 481 cases. The number of case was maximum of 894 cases in 1993 and it started to decline from 1996 to 714. Overall chromosomal aberrations were 2,100 cases (14.58%). Autosomal chromosomal abnormalities were 1,257 cases (8.73%). Among those cases, Down syndrome was 848 cases (5.89%), Edward syndrome was 38 cases (0.26%), and Patau syndrome was 6 cases (0.04%) in order of frequency. Sex chromosomal abnormalities were 843 cases (5.85%) in total. Among those cases, Turner syndrome was 527 cases (3.66%), Kleinfelter syndrome was 267 cases (1.85%). Chromosomal abnormality rate in 535 couples with recurrent spontaneous abortions was 5.98% (32 couples). And chromosomal aberration in 1068 cases with primary amenorrhea was 63.95% (683 cases). The diagnostic rate of microdeletion syndrome by FISH method was 22.71%, and marker chromosome was 20.56%. CONCLUSION: From cytogenetic analysis of 14,402 cases performed in single institute during 31 years, we performed a study on the types and the incidences of chromosomal abnormalities. We hope we could suggest a guideline for studies and treatments of congenital disorders in Korea. Along with the cytogenetic study, FISH study was also required.
Abortion, Spontaneous ; Amenorrhea ; Chromosome Aberrations ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities* ; Cytogenetic Analysis ; Cytogenetics* ; Diagnosis ; Down Syndrome ; Family Characteristics ; Female ; Hope ; Humans ; Incidence ; Korea* ; Pregnancy ; Turner Syndrome

Clinical characteristics of 336 infants referred for chromosomal study during neonatal period from Jan. 1985 to Dec. 1994 to the cytogenetic laboratory of St. Mary's Hospital, Catholic University Medical College were reviewed. Karyotypes were analysed from peripheral blood lymphocyte cultures and G-banding was carried out. A thorough survey of the clinical reasons for chromosomal analysis, prevalence of chromosomal abnormalities in each disease category, and the patterns of chromosomal aberrations were done. The results were as follows, 1) Down syndrome was the most common indication for chromosome analysis in the newborn period, consisting of 37.8 % of all cases referred. Other indications included skeletal anomaly, multi-organ anomalies, cleft lip/palate, ambiguous genitalia, odd looking face, gastrointestinal anomaly, central nervous system anomaly, and Turner syndrome. 2) Overall in 42.9 percent of cases referred, chromosomal abnormalities was found. 3) 1'he percentage of final diagnosis in suspected Down syndrome was 85.0 #96. Overall, of the non-Down syndrome cases, 16.7 96 was given a definitive diagnosis of chromosomal abnomality. In each disease category, 57.1 % of suspected Turner syndrome and 37.2 % of multi-organ anomalies had been proved having chromosomal abnormalities. The percentages of chromosomal aberrations in isolated odd looking face, ambiguous genitalia, and skeletal anomaly were relatively low, around 5 %. None of the newborns referred because of cleft lip/palate, congenital anomalies of gastrointestinal tract or central nervous system had abnormal karyotype. 4) 95.1 % of all cases diagnosed to have chromosomal abnormality had autosomal aberrations, the remainder 4.9 % had sex chromosomal aberrations. 5) Trisomy 21 was the most common numerical aberrations of autosomes, consisting of 87.5 % and trisomy 18, trisomy 13, and mosaicism was 7.1 %, 3.6 96 and 1.8 % of total. 6) 90.7 % of Down syndrome were due to trisomy 21, the rest being translocation (7.4 %) and mosaicism (1.9 %).
Abnormal Karyotype ; Central Nervous System ; Chromosome Aberrations ; Cytogenetics ; Diagnosis ; Disorders of Sex Development ; Down Syndrome ; Gastrointestinal Tract ; Humans ; Infant ; Infant, Newborn* ; Karyotype* ; Lymphocytes ; Mosaicism ; Prevalence ; Trisomy ; Turner Syndrome