A case of prenatal detection of a de novo unbalanced complex chromosomal rearrangement involving four chromosomes.

Complex chromosomal rearrangements are rarely observed prenatally. Genetic counceling of CCR carriers is complicated, especially in cases of de novo origin of the rearrangement. Here we present a new case of a de novo CCR involving four chromosomes observed in amniotic fluid cells of the fetus at 17 weeks of gestation.

[CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH INFERTILITY].

To assess the frequency and structure of chromosomal abnormalities in patients with infertility, a retrospective analysis of cytogenetic studies of 3414 patients (1741 females and 1673 males), referred to the Clinic of reproductive medicine "Nadiya" from 2007 to 2012, was performed. Chromosomal abnormalities were detected in 2.37% patients: 2.

[Meiotic segregation of chromosomes 13 and 14 of heterozygous Robertsonian translocation der(13;14) (q10; q10) carriers].

Meiotic segregation of chromosomes 13 and 14 was assessed by fluorescence in situ hybridization on sperm of five heterozygous carriers of the most frequent Robertsonian translocation der(13;14). Alternate segregation mode was predominant (mean 78.2 +/- 5.

A rare non-Robertsonian translocation with chromosome fusion der(5;15)(q35.3;q10): segregation analysis in male meiosis and preimplantation embryos.

Balanced chromosomal translocations do not normally have phenotypic manifestation, but lead to increased risk of infertility, miscarriage and live-birth of chromosomally unbalanced offspring in carriers. The risk assessment of such outcomes in carriers of rare chromosomal abnormalities is complicated since limited information is available on the frequencies of unbalanced sperm and embryo formation. Therefore, the aim of this study was to investigate the amount of normal/balanced and unbalanced sperm and embryos of a rare non-Robertsonian chromosome fusion carrier with karyotype 45,XY,der(5;15)(q35.

Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia.

Purpose: To assess the frequency and types of chromosomal abnormalities in 204 Ukrainian patients with non-obstructive azoospermia and oligozoospermia and 87 men with normozoospermia.

Methods: Cytogenetic studies were performed on peripheral blood lymphocyte samples of 164 men with oligozoospermia, 40 men with non-obstructive azoospermia and 87 men with normozoospermia attending infertility clinic.

Results: Chromosomal abnormalities were detected in 17% of patients with sperm disorders: in 35% of men with azoospermia and in 12.