We present two fetuses who were prenatally diagnosed by amniocentesis as having chromosomal mosaicism but who had a normal karyotype in the fetal blood by cordocentesis. One of the both fetuses had Turner and the other had trisomy 20 mosaicism. The prognosis for Turner mosaicism and trisomy 20 mosaicism diagnosed prenatally has yet to be established. The pregnancy with 45,X/46,XX mosaicism was terminated at 23+3 weeks' gestation. Autopsy findings showed no features of Turner's syndrome. Postnatal cytogenetic analysis revealed 45,X[4]/46,XX[52] mosaicism in skin and 46,XX in the lung tissue. The other fetus had amniocytes with trisomy 20 mosaicism and fetal cord blood cells with a normal karyotype. The baby was delivered at 38+2 weeks' gestation. At birth and 3 months after birth, no apparent abnormal findings were found. These cases with chromosomal discrepancy among various fetal tissues are rare. Two cases were discussed with the review of literature.
Amniocentesis ; Amniotic Fluid ; Autopsy ; Chromosomes, Human, Pair 20 ; Cordocentesis ; Cytogenetic Analysis ; Cytogenetics ; Female ; Fetal Blood ; Fetus ; Karyotype ; Lung ; Mosaicism ; Parturition ; Pregnancy ; Prognosis ; Skin ; Trisomy ; Turner Syndrome

OBJECTIVE: The aim of this study was to investigate the relationship between chromosome abnormalities and male or female reproductive dysfunction and to be convinced of the role of pericentric inversion of chromosome 9 (inv (9)) on human phenotypes. METHODS: Between Jan. 1995 and Dec. 2003, results of 1713 chromosomal analyses which were referred to our cytogenetic laboratory were analyzed. Study groups consisted of 658 cases of men and 18 cases of women with unexplained infertility, 65 cases of men and 109 cases of women with history of recurrent spontaneous abortion, 78 cases of women with primary amenorrhea, 61 cases of women with secondary amenorrhea and, 382 cases of men and 342 cases of women with no reproductive dysfunction (control group). The incidence of inv (9) among each group was compared with control group. RESULTS: Chromosomal abnormalities were found in 110 cases (16.7%), 2 cases (11.1%), 3 cases (4.6%), 15 cases (13.8%), 29 cases (37.2%) and 10 cases (16.4%) in each group. The incidence of chromosomal abnormalities in male infertility was higher than previous reports, and 10 cases of inv (9) were detected in male infertility group. In cases of women with infertility and secondary amenorrhea, we couldn't find the relevance between reproductive dysfunction and chromosomal abnormality. In cases of women with recurrent spontaneous abortion, 6 cases (5.5%) had autosomal translocation and 7 cases (6.42%) had inv (9). In cases with primary amenorrhea, most chromosomal abnormalities found were related to sex chromosome such as Turner's syndrome, similar to other investigations. Thirty three cases of inv (9) was detected among the whole 1713 chromosomal analyses (1.93%). In cases of male infertility, 10 cases (1.52%) had inv (9), not significantly different with male control group. But 7 cases (6.42%) of inv (9) in women with recurrent spontaneous abortion were significantly higher than female control group (p<0.05). CONCLUSION: Because considerable proportion of patients with reproductive dysfunction had various cytogenetic abnormalities, the chromosomal analysis should be considered as a diagnostic tool in the evaluation of reproductive dysfunction such as infertility, recurrent spontaneous abortion, and amenorrhea. We also found that Inv (9) had a significantly increased incidence in female recurrent spontaneous abortion.
Abortion, Spontaneous ; Amenorrhea ; Chromosome Aberrations* ; Chromosomes, Human, Pair 9 ; Cytogenetics* ; Female ; Humans ; Incidence ; Infertility ; Infertility, Male ; Male ; Phenotype ; Pregnancy ; Sex Chromosomes ; Turner Syndrome

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.
Adult ; Child ; Chromosome Aberrations ; Cytogenetic Analysis ; Cytogenetics ; Diagnosis ; Down Syndrome ; Genetic Counseling ; Growth and Development ; Gyeongsangbuk-do ; Hope ; Humans ; Incidence ; Infertility ; Karyotype ; Klinefelter Syndrome ; Korea ; Lymphocytes ; Pediatrics ; Sex Chromosomes ; 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

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

OBJECT: To analyze the frequency and the types of chromosomal abnormalities in conceptus of spontaneous abortion method: 81 cases of products of conception aborted spontaneously were collected From Nov. 1999 to May, 2004 in the cytogenetic laboratory at Kangnam St. Mary's Hospital, Catholic University Medical College. The cytogenetic results,along with clinical information including gestational age at the time of the miscarriage and maternal age, were compiled in a database. RESULTS: Cytogenetic results were obtained from 76 cases (93.8%), of which 33 cases (43.4%) showed chromosome abnormalities. Of 33 chromosomal abnormalities, 12 cases (36.4%) showed monosomy X, including one case of 46,X,+7 and the other case of 44,X, t(13q14q). Autosomal trisomy was also detected in 12 cases (36.4%). The most frequent autosomal trisomy was that of chromosome 18 (4 cases), which occurred exclusively in old maternal age (37.8+/-7.5 years old). Mosaicism was found in 2 cases. Triploidy was identified in 4 cases. Structural abnormalities were identified in 3 cases. CONCLUSION: This study showed that monosomy X and trisomy were the most common chromosomal abnormalities in spontaneous abortion, and autosomal trisomy was dependant on maternal age.
Abortion, Spontaneous* ; Chromosome Aberrations ; Chromosomes, Human, Pair 18 ; Cytogenetic Analysis* ; Cytogenetics* ; Female ; Fertilization ; Gestational Age ; Humans ; Maternal Age ; Mosaicism ; Pregnancy ; Triploidy ; Trisomy ; 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

OBJECTIVE: To systematic analyze the change of the annual distribution and indications, age distribution of the patients and chromosomal results according to patient's age and indications in midtrimester genetic amniocentesis METHODS: This study conducted between 1985 and 2004 collected 3,672 amniocenteses procedure which were done at College of Medicine, after prenatal genetic counceling for mothers who have high risk for carrying chromosomally abnormal babies. RESULTS: 1. The incidence of amniocentesis had been in gradual increase since the 1980''s, however, the number has increased sharply for the patiences in mid 1990's. 2. Of the 3,672 amniocentesis cases, 32.2% was maternal age 30 to 34 which was most common age group and followed by age 35 to 39 was 29.9% and age 25 to 29 was 27.8%. 3. The indications for amniocentesis were advanced maternal age (36.1%), abnormal maternal serum markers (31.7%) and abnormal ultrasonographic findings which implies chromosomal abnormality (9.6%). In the 1980's, amniocentesis had earlier been used primarily for those in advanced maternal age groups, at least 35 years older. Recently maternal serum markers and ultrasonography play an important role as an indicator for the amniocentesis. 4. From the 3,672 cases, 3,556 cases showed normal diploidy and 116 cases abnormal karyotype which consisted 3.16%. In autosomal disorders, 36 Down syndrome, 15 Edward syndrome, 2 Patau syndrome were diagnosed. In Sex chromosomal anomaly, 5 Turner syndrome, 6 47XYY, and 2 Klinefelter syndrome. Add to that 31 translocation including 21 Reciprocal translocation and 10 Robertsonian translocation, and 8 deletions and 4 mosaicisms were diagnosed. Of the 354 cases with abnormal ultrasonic findings, 19 (5.4%) resulted in chromosomal anomaly. Of the 1,164 casaes with positive maternal serum markers, 42 (3.6%) resulted in chromosomal anomaly. Those who had abnormal ultrasonographic findings implying chromosomal abnormality were found to have correlation with chromosomal abnomality than other indications. CONCLUSION: Midtrimester genetic amniocentesis is an important diagnostic tool in prenatal diagnosis, of which the annual incidence has been recently increased abruptly. Not only maternal age, but the maternal serum markers and ultrasonograms should be considered in prenatal counseling. Amniocentesis should be well informed to the general population.
Abnormal Karyotype ; Adult ; Age Distribution ; Amniocentesis* ; Biomarkers ; Chromosome Aberrations ; Counseling ; Cytogenetics* ; Diploidy ; Down Syndrome ; Female ; Humans ; Incidence ; Klinefelter Syndrome ; Maternal Age ; Mothers ; Pregnancy ; Pregnancy Trimester, Second ; Prenatal Diagnosis ; Turner Syndrome ; Ultrasonics ; Ultrasonography

OBJECTIVE: Amniocentesis is the most commonly used invasive method for prenatal diagnosis of genetic disorders. We performed this study to analyze the indications, distributions of maternal age and cytogenetic results of midtrimester amniocentesis. METHODS: We retrospectively analyzed 785 cases of midtrimester prenatal genetic amniocentesis which were performed in the cytogenetics laboratory using in situ coverslip culture at Dong-A University Hospital from January 1995 to March 2003. RESULTS: Amniocentesis was practiced mostly from 15 weeks to 20 weeks of gestational ages. Requested indications of amniocentesis were abnormal maternal serum screening (421, 53.7%), advanced maternal age (233, 29.7%) and abnormal ultrasonographic finding (61, 7.8%) in the order of decrease. The overall incidence of chromosome abnormalities was 5.1% (40 cases), and it contains 27 cases (3.4%) of numerical abnormalities and 13 cases (1.7%) of structural abnormalities. Among autosomal abnormalities Down syndrome was most common (13 cases) and followed by Edward syndrome (2 cases). Of the sex chromosomal abnormalities, three cases of Turner syndrome and three cases of Kleinefelter syndrome were found. Chromosomal abnormalities were most frequently noted in the maternal age of 30 to 34 years old (14 cases, 35.0%), 25 to 29 years old (12 cases, 30.0%), followed by 35 to 39 years old (7 cases, 17.5%). The frequency of pseudomosaicism were 5 cases (0.6%). CONCLUSION: Maternal serum screening, advanced maternal age and antenatal ultrasonographic finding must be important screening methods for amniocentesis which is considered to the most effective diagnostic procecdure for prenatal cytogenetic studies. I conclude that the karyotyping analysis of midtrimester amniocentesis is efficacious method for detection of chromosomal aberration and genetic counselling for parents.
Adult ; Amniocentesis* ; Chromosome Aberrations ; Cytogenetic Analysis* ; Cytogenetics* ; Down Syndrome ; Female ; Gestational Age ; Humans ; Incidence ; Karyotyping ; Mass Screening ; Maternal Age ; Parents ; Pregnancy ; Pregnancy Trimester, Second* ; Prenatal Diagnosis ; Retrospective Studies ; Turner Syndrome

OBJECTIVE: To analyze the indications, clinical features, cytogenetic results and complications of amniocentesis and to determine the efficacy of antenatal genetic amniocentesis. METHODS: We analyzed retrospectively maternal age, gestational age, indications, transplacental puncture, frequency, discoloration of amniotic fluid, karyotype and complications in 325 cases of prenatal genetic amniocentesis performed at Chungnam National University Hospital from January 2000 to December 2002. RESULTS: The most common age group was from 30 to 34 (31.4%) and mean age was 32.7 years old. 85.3% of cases were performed at 16th-20th gestational weeks. Abnormal maternal serum markers were the most common indication of amniocentesis (56.0%) and the second most common indication was maternal age over 35 (33.2%). Abnormal karyotypes were found in 12 cases (3.6%) and normal variants were 21 cases (6.5%). Numerical aberration were 9 cases (2.7%) and structural aberration were 3 cases (0.3%). Among the autosomal aberrations, Down syndromes were 5 cases and Edward syndrome was 1 case. Among the sex chromosomal aberrations, 47,XXX were 2 cases and Turner syndrome was 1 case. As the increasing maternal age, the incidence of abnormal karyotype was increased. Procedure-related complications occurred in 11.7% of cases and fetal loss rate was 7.4%. No significant associations were found between procedure-related complications and maternal age, gestational age, transplacental puncture, frequency, discoloration of amniotic fluid, and antibiotic treatment. CONCLUSION: Amniocentesis is useful for prenatal genetic diagnosis in pregnancies with increasing risk of chromosome aberrations, such as advanced maternal age, abnormal maternal serum markers or abnormal US findings. Further studies are necessary to identify risk factors of complications after invasive procedure.
Abnormal Karyotype ; Amniocentesis* ; Amniotic Fluid ; Biomarkers ; Chromosome Aberrations ; Chungcheongnam-do ; Cytogenetic Analysis* ; Cytogenetics* ; Diagnosis ; Female ; Gestational Age ; Humans ; Incidence ; Karyotype ; Maternal Age ; Pregnancy ; Pregnancy Trimester, Second* ; Punctures ; Retrospective Studies ; Risk Factors ; Turner Syndrome