The Types and Frequencies of X Chromosome Abnormalities in Women with Reproductive Problems.

Introduction: X chromosome architecture and integrity are essential for normal ovarian function. Both numerical and structural X chromosome abnormalities play an important role in female infertility. This study aimed to determine the types and frequency of X chromosome aberrations detected in women referred for cytogenetic investigation due to reproductive problems.

A 46,XX Karyotype in Men with Infertility: Two New Cases and Review of the Literature.

46,XX male sex reversal syndrome is a rare genetic cause of male infertility. We report on two new cases of this syndrome in men presenting with hypogonadism and infertility. Cytogenetic and molecular analysis was performed in both patients.

Female Reproductive Ageing and Chromosomal Abnormalities in a Large Series of Women Undergoing IVF.

Chromosomal abnormalities are often detected in women with reproductive problems. This study aimed to investigate the presence and type of chromosomal aberrations in peripheral blood of women undergoing in vitro fertilization (IVF) and their possible association with advanced maternal age (AMA). A total of 1,837 women undergoing IVF between 2016 and 2019 were enrolled in the study.

Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF.

Background/aim: To determine the incidence of X chromosome mosaicism in women undergoing in vitro fertilization (IVF) treatment and present preimplantation genetic testing for aneuploidy (PGT-A) outcome of this group.

Patients And Methods: A total of 1,058 women undergoing IVF and 154 women with no fertility problems were enrolled in the study. Karyotyping from peripheral blood lymphocytes was performed by conventional cytogenetics.

Chromosome analysis and molecular cytogenetic investigations of an epithelioid hemangioendothelioma.

Epithelioid hemangioendothelioma is a rare, well-differentiated endothelial tumor with a wide spectrum of clinical behavior and for which genetic data are extremely limited. We present a case of an epithelioid hemangioendothelioma in a 22-year-old male, which was analyzed with multiple cytogenetic approaches. Conventional cytogenetic analysis detected structural abnormalities of 11q13 and 11q14, rings, and marker chromosomes.

Cytogenetic manifestations of multiple myeloma heterogeneity.

To investigate the genetic basis of the great heterogeneity observed in the clinical behavior of multiple myeloma (MM), a combined approach of G-banding, interphase fluorescence in situ hybridization (FISH), and multicolor FISH (M-FISH) was employed to analyze 70 samples from 53 patients with MM. G-banding revealed abnormal karyotypes in 77% of the cases. The origin of 31 chromosome markers was identified or revised by M-FISH.

Telomerase activity and genetic alterations in primary breast carcinomas.

It has been proposed that the structural and numerical chromosome abnormalities recorded in breast cancer could be the result of telomere dysfunction and that telomerase is activated de novo to provide a survival mechanism curtailing further chromosomal aberrations. However, recent in vivo and in vitro data show that the ectopic expression of telomerase promotes tumorigenesis via a telomere length-independent mechanism. In this study, the relation between telomerase expression and the extent of chromosomal aberrations was investigated in 62 primary breast carcinomas.

Cytogenetic profile of unknown primary tumors: clues for their pathogenesis and clinical management.

Unknown primary tumors (UPTs) represent an entity of great clinical and biological interest, whose origin cannot be determined even after medical workup. To better understand their pathogenesis by outlining their genetic composition, 20 UPTs were investigated by G-banding, supplemented with Fluorescence In Situ Hybridization and Comparative Genomic Hybridization analyses. The data obtained were sufficient to reach a diagnosis in five cases-four lymphomas and one Ewing sarcoma-demonstrating that in a subset of UPTs, cytogenetics can be an adjunct for differential diagnosis.

Genome profiling of breast cancer cells selected against in vitro shows copy number changes.

About 20% of breast carcinomas show no clonal chromosome abnormalities when analyzed after short-term culturing. An interesting question is whether this subset of breast carcinomas really is karyotypically normal or if selection for normal cells occurred in vitro. To address this issue, 26 breast carcinomas that had shown no cytogenetic changes by chromosome banding analysis were examined by comparative genomic hybridization (CGH), a technique that does not require culturing or tumor metaphase cells.

Evaluation of breast cancer polyclonality by combined chromosome banding and comparative genomic hybridization analysis.

Cytogenetically unrelated clones have been detected by chromosome banding analysis in many breast carcinomas. Because these karyotypic studies were performed on short-term cultured samples, it may be argued that in vitro selection occurred or that small clones may have arisen during culturing. To address this issue, we analyzed 37 breast carcinomas by G-banding and comparative genomic hybridization (CGH), a fluorescent in situ hybridization--based screening technique that does not require culturing or tumor metaphases.

Karyotypic evolution in breast carcinomas with i(1)(q10) and der(1;16)(q10;p10) as the primary chromosome abnormality.

The pattern of clonal karyotypic evolution in breast carcinomas carrying an i(1q) or a der(1;16)(q10;p10) as the primary chromosome abnormality was assessed in a series of 42 tumors, including 8 described here for the first time, with either or both (3 tumors) of them defining cytogenetic features. Evidence of clonal evolution was seen in somewhat more than half of all cases in both subgroups. The secondarily acquired aberrations appeared to be nonrandom in distribution.