Chromosomal abnormalities and hormonal disorders of primary amenorrhea patients in Egypt.

Background: Primary amenorrhea is defined as the absence of menstruation and secondary sexual characteristics in phenotypic women aged 14 years or older. Hormonal disorders are main causes of primary amenorrhea. Common hormonal cause of primary amenorrhea includes pituitary dysfunction and absent ovarian function. The aim of this study was to estimate the incidence and types of chromosomal abnormalities in patients with primary amenorrhea in Egypt. Materials and Methods: Chromosomal analysis and hormonal assay were carried out on 223 patients with primary amenorrhea that were referred from different parts of Egypt to Cytogenetic laboratory of Genetic Unit, Children Hospital Mansoura University, from July 2008 to December 2010. FISH technique was carried out in some of cases to more evaluation. Results: The frequency of chromosomal abnormalities was 46 (20.63%) in primary amenorrhea patients. The chromosomal abnormalities can be classified into four main types. (1) The numerical abnormalities of the X chromosome were detected in 23 (50 %). (2) Structural abnormalities of the X chromosome were detected in 11 (23.91%). (3) Mosaicism of X chromosome was found in 10 (21.74%). (4) Male karyotype 46, XY was presented in 2 (4.35%). Conclusion: The present study showed that karyotype and FISH are necessary to detect the causes of primary amenorrhea. This study also revealed the incidence of chromosomal abnormalities in women with primary amenorrhea in Egypt is similar to that reported in previous literatures.

Cytogenetic study in 14,402 patients referred for suspected congenital disorders in Korea: YUMC 31 years experience from 1974 to 2004 years / 대한산부인과학회지

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.

The Cytogenetic Analysis of Leukemia Patients; A Study of 515 Cases / 대한혈액학회지

BACKGROUND: Cytogenetic study is important in prediction of prognosis and evaluation of treatment effect in leukemia. The cytogenetic aberrations of leukemia are nonrandom, but uneven geographic distribution of specific abnormalities have been reported in a few studies. So we analyzed cytogenetic study to find these uneven distribution patterns. METHODS: The conventional cytogenetic study was performed for 515 cases with acute and chronic leukemia on initial diagnosis. The results were analysed in each subtypes classified according to FAB criteria. RESULTS: The aberration rate was 62.0% in acute myelogenous leukemia (AML), 72.0% in acute lymphoblastic leukemia (ALL), 92.8% in chronic myelogenous leukemia (CML), 37.5% in chronic lymphocytic leukemia (CLL), 56.9% in myelodysplastic syndrome (MDS) and 36.4% in acute undetermined leukemia. The frequent anomalies were t(8;21)(q22;q22), t(15;17)(q22;q11), -Y, +8, +21 in AML, t(9;22)(q34;q11), del(6q), +8, t(1;19)(q23;p13), +21, -20 in ALL, -7/del(7q), +8, del(12p), +11 in MDS. Philadelphia chromosome was found in 94.8% of CML and +22q-, +8 was frequent secondary changes. The incidence of t(8;21)(q22;q22) in M2, t(15;17)(q22;q11) in M3, t(9;22)(q34;q11) in ALL and -5/del5q, -7/del7q in MDS were 54.9%, 95.2%, 23.6%, 4.0% and 40.0%, respectively. CONCLUSION: There were no marked differences in distribution pattern of common aberrations compared to previous reports. But the frequency of some anomalies showed specific findings. The incidence of t(8;21) in M2 subtype and t(9;22)(q34;q11) in ALL were higher in oriental countries including our results than in western countries. The incidence of -5/del(5q) in MDS was lower in oriental countries. These findings suggest the geographic heterogeneity which may give some help to investigate the genetic and environmental influence on the karyology of tumors.

Cytogenetic Analysis in 543 cases of amniocentesis / 대한산부인과학회잡지

OBJECTIVE: To analyze 543 cases of amniocentesis with indications, cytogenetic results. METHOD: This study includes 543 cases cytogenetic study results which amniocentesis to detect fetal chromosomal abnormality in the Cytogenetic Laboratory at Eun Hospital in Kwang-Ju from August 1996 to December 2000, as gestational ages, indications of amniocentesis, maternal age distributions, chromosome aberrations with cytogenetic results. The cytogenetic results of chromosome aberration was identified by parents inheritance and de novo karyotypes as parents periperal blood cytogenetic study. RESULTS: Amniocentesis performed mostly from 15 weeks to 20 weeks of gestaional ages. Requested indication of amniocentesis presents abnormal maternal serum screening (37%), infertility (23%) and maternal old age (> or =35) (17%). Chromosome aberration according to amniocentesis indication was suspected fetal anomaly by ultrasonogram (8.6%), previous family history (5.7%). Chormosome aberration following maternal ages, more 40 years old women were found highly 7.9%. The frequency of chromosome aberration was 5.5% but de novo chromosome aberration was 2.2%. Numerical aberration was overall new karyotypes (1.3%). Structural aberration was inheritance karyotypes (3.3%) and de novo karyotypes (0.9%). CONCLUSION: Amniocentesis is a effective diagnostic tools in fetal chromosome aberration. Indication of fetal chromosomal anormality by ultrasonography and advanced maternal ages is an important diagnostic method with chromosome aberrations. Prenatal fetal chromosome aberrations included inheritance and de novo karyotypes. Especially, identification of de novo chromosome aberrations may predict fetal anomaly and counsel the fetus for pregnant parents.

The Change of Mitotic Index in Bone Marrow Chromosome Analysis According to Time in Culture and Use of Giant Cell Tumor-Conditioned Medium / 대한임상병리학회지

BACKGROUND: One of major challenge of cytogenetics is to obtain qualitative metaphases to achieve a meaningful analysis. Methotrexate (MTX) synchronization and the Giant Cell Tumor-Conditioned Medium (GCT-CM) have been used to improve the metaphase preparation from hematopoietic malignancies. The purpose of this study is to determine Mitotic Index (MI) of bone marrow samples under several culture conditions that may improve the quality of chromosome preparation. METHODS: Sixty nine bone marrow samples were cultured into 3 groups by traditional methods. The first group was tested for the effect of cell concentration on MI. The second, for the effect of MTX concentration on MI. The third group was classified into 4 subgroups as follows: 1) MTX only in 24 hour culture 2) MTX and GCT-CM in 24 hour culture 3) 48 hour culture without MTX 4) 48 hour culture and GCT-CM. MI was calculated as the ratio of metaphase to interphase cells in 1000 cells. Quality of metaphase was evaluated by classified the metaphase cell into 3 types. RESULTS: The first and second groups revealed no relationship between cell concentration, amount of MTX and MI, respectively. The third group showed significant differences among four subgroups. The MI increased in subgroups using GCT-CM and in the 48 hour culture, with greatest increase in group using 48 hour culture and GCT-CM simultaneously. CONCLUSIONS: The use of GCT-CM medium and prolonged culture improved the quality of metaphase cells and MI. It is therefore beneficial to use these conditions in cytogenetic studies on bone marrow in hematologic disease.

The Frequency of Chromosomal Abnormalities and the Prenatal Cytogenetic Analyses for Couples with Recurrent Abortions

Between 1988-1998, cytogenetic analyses were performed for 1,476 couples and 162 women with recurrent abortions. We applied GTG-banding, high resolution-banding and FISH (fluorescent in situ hybridization) techniques in this study. The frequency of balanced translocations was 3.6% (112/3114). Of them, 74 cases (2.38%) were reciprocal translocations and 38 (1.22%) were robertsonian translocations. Chromosome aberrations were more frequent in women (80 cases) than in men (32 cases). No phenotypical abnormalities were found in all carriers who had experienced recurrent spontaneous abortions or experienced giving birth to malformed offsprings. Prenatal cytogenetic analyses were carried out on 40 subsequent pregnancies for carrier couples with balanced translocation. The fetal karyotypes showed that 13 cases (32.5%) were normal, 25 (62.5%) were balanced translocations, and two (6%) were unbalanced translocations. It is believed that the frequency of chromosomal abnormalities in patients with recurrent spontaneous abortion is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations matching that of one of their parents. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal cytogenetic analysis, individuals with balanced translocations are predisposed to giving birth to malformed offsprings with partial trisomy or monosomy. Therefore, we recommend the cytogenetic and the prenatal cytogenetic analysis for those who experiences recurrent abortion as well as in case they become pregnant, to prevent the birth of offsprings with chromosomal abnormalities.

Cytogenetic Studies of the Leukocytes of Couples with Habitual Abortions

Karyotypes were prepared from peripheral blood leukocytes in 18 couples with his-tories of habitual abortions. The Standard chromosome analysis and G-banding techniques were studied. The abnormal karyotypes seen were one case with 20% of 45, XX, -14, -15, t(14/15), one case of 46, XY/45, XY, -21 mosaicism, one case of 45, XX, -14, -21, t(14/21), one case of 46, XX/45, XO mosaicism and one case of 46, XYq+. Many other types of chromosomal abnormalities from many reports in couples with spontaneous abortions are discussed.