Cellular and Molecular Genetic Analysis of 1980 Male Infertility Patients

Background The aims of this study were to investigate the distribution of chromosome karyotype abnormality and azoospermia factor (AZF) microdeletion on Y chromosome in male infertility patients and its effect on infertility. Further, the study aimed to guide fertility in patients. Methods A total of 1980 azoospermic and oligoospermic male infertility patients were selected from the male outpatient department of our hospital from January 2016 to December 2019. Peripheral blood was collected from the patients for karyotype analysis. Further, AZF microdeletion analysis on Y chromosome was performed by capillary electrophoresis. Results Among the patients of male infertility, 178 had chromosomal abnormality (8.99%, 178/1980). Among them, 98 had an abnormal chromosome number. Among the 98 patients, 47, XXY was the most common (80 cases), accounting for 44.99 % (80/178) of abnormal karyotypes. There were 211 cases of AZF microdeletion on Y chromosome, with a total deletion rate of 10.66% (211/1980). The most common type was AZFb/c deletion (sY1192 140 cases), accounting for 66.3 % (140/211). Conclusion Karyotype abnormality and AZF gene microdeletion are important causes of male infertility. Men with Yqh-, del(Y) (q11) have a higher risk of AZF microdeletion. Infertility patients should routinely undergo cell and molecular genetic tests to guide patient fertility.

Hyperdiploid Multiple Myeloma with Novel Complex Structural Chromosome Abnormalities Associated with Poor Prognosis : A Rare Case Report

Hyperdiploid multiple myeloma (MM) is associated with better prognosis and non-hyperdiploid subtype is associated with variable to adverse prognosis based on the nature of karyotype abnormality. Rarely exceptions to this hyperdiploid and non-hyperdiploid divisions do exist in a minority. We report an adult male MM patient who showed hyperdiploid karyotype with few novel complex abnormalities and who showed poor clinical outcome. Conventional cytogenetic analysis carried out in 22 GTG banded metaphases showed 53,Y,der(X)t(X;22)(q27;q11.2),+3,+5,+6,+9,+11,+15,der(17)ins(17;1;3)(q11.2;?;?),der(17)ins(17;1;3)(q11.2;?;?),+19,-22,+mar karyotype pattern in 15 metaphases whereas 7 metaphases showed 46,XY karyotype pattern. Interphase FISH revealed biallelic del(13q14) and del(17p13) but no translocations involving the 14q32 region. Through Spectral karyotyping FISH, the origin of complex abnormalities involving der(17) chromosome, translocation t(X;22), and marker chromosome could be clearly delineated. Although the present case showed hyperdiploid karyotype, he showed an adverse prognosis probably due to the co-existence of high risk and complex abnormalities and expired 5 months after initial diagnosis despite standard treatment given.

Hypodiploidy in patients with acute lymphoblastic leukemia

Background. Acute lymphoblastic leukemia (ALL) is characterized by different clinical course and different sensitivity to therapy. Taking into consideration their significant prevalence an intensive search for new prognostic criteria is conducted that may determine individual prognosis and choose the most appropriate treatment approach for patients with ALL, who often require transfusion therapy and replacement therapy with blood components. Objective. To detect the frequency, diagnostic and prognostic significance of hypodiploidy in patients with ALL. Materials and methods. Standard cytogenetic investigation of bone marrow and/or peripheral bloodcells was performed according to the standard techniques from 57 adult patients with ALL. Results and discussion. Chromosomal aberrations of various kinds were found in 37 (65 %) patients with ALL. Among them presence of one karyotype abnormality was established in 9 (24 %) patients, two abnormalities – in 10 (27 %) and multiple structural and/or numerical changes (≥3) – in 18 (49 %). Samples from 20 (35 %) patients showed a normal female or male karyotype without cytogenetically visible changes. The most common abnormalities in ALL were: trisomy 8, rearrangements of 7q, 17p and 11q23, translocations t(4;11)(q21;q23), t(9;22)(q34;q11), marker chromosomes, acentric structures, hypodiploidy, hyperdiploidy, complex karyotype (≥3 changes) etc. Hypodiploidy was found in 2 (4 %) patients with ALL. One patient, except for abnormal ones, had normal metaphases in him karyotype. Of two patients with hypodiploidy, one had only numerical abnormalities, whereas other one had also structural cytogenetic aberrations, except the numerical changes, namely t(1;6)(q32;q27), add(12)(q24), del(17)(p11), r(17)(p13q25). Hypodiploidy is an unfavorable marker in ALL and a near haploidy is an extremely unfavorable factor. Conclusions. Cytogenetic abnormalities of various kinds were found in 37 (65 %) patients with ALL. The frequency of hypodiploidy was 4 %. ALL patients with hypodiploidy were classified into cytogenetic categories of ALL with a poor risk prognosis. Thus, cytogenetic investigations should be included in the standard examination of patients with ALL for diagnosis, prognosis and selection the optimal treatment strategy.

Pure erythroid leukemia in a polymyositis patient treated with azathioprine

Acute erythroid leukemia, also known as acute myeloid leukemia-M6, may be associated with previous chemotherapy or immunosuppressive therapy. For 10 years, a 69-year-old Japanese female patient with pure erythroid leukemia (or acute myeloid leukemia-M6b) was treated for polymyositis with 50–100 mg/day azathioprine. She complained of dyspnea with low-grade fever and was diagnosed as having pure erythroid leukemia. Chromosomal analysis revealed a complex karyotype abnormality, with the deletion of 5q, -6, -7 and addition of 11q13. No morphological myelodysplastic changes were observed in her bone marrow cells. In this study, azathioprine accumulation was considered to be associated with the patient’s leukemogenesis.

Non-immune hydrops fetalis as a diagnostic and survival problems: what do we tell the parents?

Nonimmune hydrops fetalis (NIHF) is one of the most difficult problems related to pregnancy. The aim of this study was to evaluate the etiological analysis as well as the fetal and neonatal outcomes of NIHF.We reviewed the prenatal sonographic data and postnatal medical records of pregnant women diagnosed as NIHF in our hospital between January 2001 and May 2013. All cases were categorized using 12 etiological classification groups. Demographic data, diagnostic laboratory parameters, karyotyping results, sonographic and autopsy findings, postnatal final diagnoses, and perinatal mortality rates were also recorded.This study included 147 cases. The mean gestational age at the time of the initial diagnosis was 23.84±6.30 weeks. Cardiovascular causes were the most common (21.7%), followed by structural abnormalities (17.0%), chromosomal abnormalities (6.8%), and skeletal dysplasias (5.4%). Chromosomal abnormalities were detected in 12.8% of these cases. The most common karyotype abnormality was monosomy X. Postmortem autopsy was performed in 50 (34%) cases, and at least one finding was detected in 40 (80%) of these cases. The overall mortality rate was 78.2%. The gestational week at delivery, birth weight, and Apgar score (1NIHF can lead to high perinatal morbidity and mortality, yet its etiopathology remains poorly understood. Early diagnosis of NIHF gives parents an opportunity to make an informed choice about the possible complications of a pregnancy.