title: The genetic and cytogenetic basis of male infertility.
abstract: Despite the difficulties in determining the relative maternal vs. paternal contributions to infertility it is often suggested that a male factor problem is implicated in 50% of cases. This review is concerned specifically with male fertility disorders that have a clearly defined genetic component. The genetic causes of infertility can be broken down into Y chromosome deletions (specifically deletions in the AZF a, b, and c regions), single gene disorders (particularly those relating to the CFTR gene), multifactorial causes and chromosome abnormalities. Chromosome abnormalities can be numerical (such as trisomy--full blown or mosaic) or structural (such as inversions or translocations). Of especial interest at present is the incidence of levels of numerical chromosome abnormalities in the sperm of infertile men; prospects for screening sperm for such abnormalities are discussed.
authors.affiliation: Cell and Chromosome Biology Group, Department of Biological Sciences, Brunel University, Uxbridge, Middlesex UB8 3PH, UK. Darren.Griffin@brunel.ac.uk
authors.forename: Darren K
authors.initials: DK
authors.lastname: Griffin
authors.forename: Katie A
authors.initials: KA
authors.lastname: Finch
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics; D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y / Q000235:genetics*; D003550:Cystic Fibrosis / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009223:Myotonic Dystrophy / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000235:genetics