No abstract available.
Cytogenetics* ; Turner Syndrome*

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

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

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*

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

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: The cytogenetic analysis for earlier detection of fetal chromosome aneuploidies is performed from chorionic villus using either long-term culture or direct chromosome preparation. To analyze the cause of pregnancy loss, we also attempt the cytogenetic study in product of conception(POC) using chorionic villi or fetal tissue. But the failure of analysis often occurs in direct preparation of villus cells and product of conception(POC). We studied to evaluate the clinical usefulness of FISH in uncultured chorionic villus cells of culture-failed cases. METHODS: According to the patient's indication, we performed FISH for chromosome 18, 21, X and Y in chorionic villi as well as POC and compared FISH results with their chromosomal studies. RESULTS: We found one trisomy 18 and one trisomy 21 in Chorionic Villus Sampling and one trisomy 18 and one monosomy X(45, X) in POC. The averages for accuracy of FISH were 83-91% and all cases are represented consistent results with their chromosomal studies. Among them, we could analyze using FISH only in 5 cases of culture failure including one case of monosomy X in POC. CONCLUSION: We could detect aneuploidy with uncultured chorionic villus cells in case of culture failure, using FISH, it may be the potential method to assist the cytogenetic study.
Aneuploidy ; Chorion* ; Chorionic Villi Sampling ; Chorionic Villi* ; Chromosomes, Human, Pair 18 ; Cytogenetic Analysis ; Cytogenetics ; Down Syndrome ; Female ; Fetus ; Monosomy ; Pregnancy ; Trisomy ; Turner Syndrome

BACKGROUND: The purpose of this study was to analyze the cytogenetic results of amniocentesis in terms of patients' ages and indications. It was further intended to examine the temporal trend in amniocentesis indications for cytogenetic analysis. METHODS: A total of 651 cases of amniocentesis were examined at Masan Samsung Hospital dur-ing the period 1996 to 2001 and were used to analyze the age distribution, indications, and chromo-somal results in relationship to maternal age and with the indication for amniocentesis. RESULTS: The overall rate for chromosomal abnormalities was 3.8% (25 out of 651 cases). In addi-tion, the 25-29 age group fell into the most common age distribution group with 261 from 651 amnio-centesis cases (40.1%). It turned out that the abnormal triple test for alpha-fetoprotein (AFP), the human chorionic gonadotropin (hCG), and the unconjugated estriol (nE3 ) were the most common indications for amniocentesis (51.4%), and 3.9% (13 out of 335 cases) showed chromosomal abnormalities. Among 25 cases of chromosomal abnormalities, 18 cases were numerical and 7 cases were struc-tural abnormalities. In 18 cases of numerical abnormalities, there were 12 Down syndrome cases, 4 Edwards syndrome cases, 1 Patau syndrome case and 1 Turner syndrome case. In 7 cases of struc-tural abnormalities, there were 6 cases of reciprocal translocation and 1 case of Robertsonian translo-cation. CONCLUSIONS: A primary indication for cytogenetic analysis in mid-trimester amniocentesis appeared as an abnormal triple test. Although such triple tests were effective enough in detecting chromoso-mal abnormalities in fetuses, it increased unnecessary amniocentesis. It is proposed that a new technique for non-invasive prenatal diagnosis for chromosomal abnormalities with a sufficient detection rate and a low false positive rate (such as analysis of fetal nucleated red blood cells from maternal blood) should be introduced.
Age Distribution ; alpha-Fetoproteins ; Amniocentesis* ; Chorionic Gonadotropin ; Chromosome Aberrations ; Cytogenetic Analysis* ; Cytogenetics* ; Down Syndrome ; Erythrocytes ; Estriol ; Fetus ; Humans ; Maternal Age ; Prenatal Diagnosis ; Turner Syndrome