Polymorphic variants on chromosomes are considered 'normal', as heterochromatin has no
coding potential and nucleolar organizing regions (NOR) contain genes coding for rRNA …

Infertility–the inability to achieve conception or sustain a pregnancy through to live birth–is
very common and affects about 15% of couples. While chromosomal or genetic …

In this study the substantial and in part contradictory data available in the literature was
collected concerning the frequency of small supernumerary marker chromosomes (sSMC) in …

Context: Most previous studies of 45, X/46, XY mosaicism are case reports or have
described single aspects of the disease. Objective: The objective was to provide longitudinal …

Background & objectives: Chromosomal anomalies have been postulated to be as one of
the principal genetic factors in male infertility. Cytogenetic evaluation of men with severely …

Context Gender assignment followed by surgery and hormonal therapy is a difficult decision
in the management of 45, X/46, XY patients with abnormal external genitalia at birth …

OBJECTIVE: To determine the group of infertile patients that would benefit from sperm
fluorescent in situ hybridization (FISH) analysis, the number of chromosomes to be …

Aim: Heterochromatin polymorphism is considered a variant of a normal karyotype but is
more frequent in infertile men. The aim of this study was to evaluate the correlation between …

CONTEXT AND OBJECTIVE: 45, X/46, XY mosaicism, or mixed gonadal dysgenesis, is
considered to be a rare disorder of sex development. The aim of our study was to investigate …

Chromosomal polymorphisms involve heterochromatic regions and occur in the general
population. However, previous studies have reported a higher incidence of these variants in …