OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes research articles, reviews, communications and technical notes, etc. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.
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Chromosomal Abnormalities and Infertility
Submission Deadline: April 30, 2024 (Open) Submit Now
Elisavet Kouvidi, PhD
Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece
Research interests: cytogenetics, chromosomes, infertility, IVF.
About This Topic
Infertility is defined as the failure of a couple to achieve a clinical pregnancy after 12 months of regular unprotected sexual intercourse. Approximately 1 in 6 couples face infertility problems worldwide. Chromosomal abnormalities (numerical or structural) are one of the most common genetic causes of infertility and their incidence in couples with infertility could reach 15% significantly higher than in the general population. The most common numerical chromosomal abnormalities in couples with infertility are Klinefelter syndrome (47,XXY) in males and Turner syndrome (45,Χ0) in females. A frequent finding is the low-level X chromosome aneuploidy in a mosaic form in women of advanced age, which should be taken into consideration when counselling couples. Structural abnormalities include balanced (reciprocal or Robertsonian) translocations and inversions and although carriers have a normal phenotype, they have a high risk of producing abnormal embryos. Carriers of a chromosomal abnormality should be offered genetic counselling by a geneticist to help them understand the specific finding and propose available options, such as prenatal or preimplantation testing.
I would like to invite you to contribute to the Special Issue entitled “Chromosomal Abnormalities and Infertility”. Original research papers, reviews, editorial, short communications, case reports and perspectives are all welcome for submission.
by Elisavet Kouvidi , Haralambia Tsarouha , Christina Katsidi , Sophia Zachaki , Nikolaos Nitsos , Sofia Samourgianidi , Amelia Pantou , Lazaros Leandros , Emmanouel Kanavakis and Ariadni Mavrou
Received: 21 October 2022; Published: 08 February 2023; doi: 10.21926/obm.genet.2301178
Chromosomal abnormalities represent a significant genetic cause of male infertility because they impair spermatogenesis. The objective of the current study was to determine the prevalence and distribution of chromosomal abnormalities in Greek men with infertility. Four hundred eighty-eight infertile men (27 azoospermic, 168 with [...]
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