Chromosome 15 aneuploidy in the sperm and conceptus of a sibling with variable familial expression of round-headed sperm syndrome

Sperm Chromosomal Abnormalities In Patients With Unexplained Recurrent Abortions

“…Paternally transmitted chromosomal aberrations in mouse zygote have been reported to be involved in embryonic loss in mice [20]. The transmission of chromosomal abnormalities from sperm has been demonstrated in two cases with 45, X and trisomy 15 abortus with patients who had increased sperm sex chromosome nullisomy and chromosome 15 aneuploidy, respectively [8,31]. All these findings further imply a role of sperm chromosome abnormalities in the recurrent pregnancy wastage.…”

“…Meiotic abnormalities could arise throughout meiotic nondisjunction in the germ line. Two recent case reports showed that higher sperm chromosome 15 and X aneuploidy in men whose wives miscarried a fetus with trisomy 15 and loss of paternal X [8,31]. Similarly, an increased incidence of sperm chromosome aneuploidy in couples with a history of recurrent pregnancy loss has been reported [9,12,27].…”

Proteins Involved in Meiotic Recombination: A Role in Male Infertility?

“…Bernardini et al [2000;2005] found a significant increase in the aneuploidy and diploidy rates in spermatozoa of men with abnormal semen parameters [Bernardini et al 2000;Bernardini et al 2005]. Globozospermia, teratozoospermia, and oligoasthenoteratozoospermia have all been shown to be factors associated with increased aneuploidy rates [Pfeffer et al 1999;Carrell et al 2001;Ditzel et al 2005;Faure et al 2007].…”

“…Aneuploid gametes can also lead to the production of offspring with chromosome imbalances and developmental disabilities, such as trisomy 21 and the array of sex chromosome imbalances [Hassold and Hunt 2001]. This may contribute to the increased rate of sex chromosome aneuploidies, birth defects and miscarriages which has been reported in IVF/ICSI offspring [Carrell et al 2001;Dunn et al 2001;Hansen et al 2002;Van Steirteghem et al 2002;Kurinczuk et al 2004;Seller et al 2004;Hansen et al 2005;Macas et al 2006].…”

Case report: elevated sperm aneuploidy levels in an infertile Robertsonian translocation t(21;21) carrier with possible interchromosomal effect

“…Carriers of a balanced Robertsonian translocation show impaired gametogenesis to a variable degree and elevated levels of nullisomic or disomic sperm (3-40%, mean 15%) [1][2][3][4][5]. The fertilization with an aneuploid sperm results in monosomy or trisomy in the fetus [7,8]. Furthermore fetal aneuploidies are a major cause of pregnancy loss and fetal malformations [9].…”