...Joana Seixas; Niklas Padutsch; Stefanie Kankel; Thomas Liehr; Alody Sy Introduction: The term inversion refers to an aberration caused by two breakage and fusion events found in one or both arms of a chromosome. The presence of such aberrations can but must not be associated with infertility...

..., instructions or products referred to in the content or advertisements. 2024 Parthenogenetic chimerism Short tandem repeat Infertility Oligoasthenoteratozoospermia Established Facts Parthenogenetic chimera, resulting from endoreplication of the female pronucleus via mitotic divisions...

... an important role in female infertility. This study aimed to determine the types and frequency of X chromosome aberrations detected in women referred for cytogenetic investigation due to reproductive problems. Methods: 2,936 women (average age: 37.5 years) were enrolled in the present study. Peripheral blood...

... times more common in infertile men than in the general population. This study aimed at characterizing a supernumerary marker chromosome in a nonconsanguineous infertile couple and analyzing its meiotic segregation in sperm by multicolor FISH. The male partner’s karyotype was mos 47,XY,+idic(15)(pter...

... chromosome mosaicism and the number of aneuploid cell lines observed in women of AMA could be an indication of aneuploidy and poor quality of oocytes contributing to infertility. [email protected] Different types of mosaic karyotypes exhibiting 1, 2, or more aneuploid cell lines were detected (Table...

... of BAF has been shown to lead to embryonic lethality and gonadal defects. The BAF paralog, namely, barrier-to-autointegration factor 2 ( BANF2 ), exhibits a testis-predominant expression pattern in both humans and mice. Unlike BAF , it may cause isolated male infertility. Therefore, we used the CRISPR...

... and characterization in a context of infertility and to review the literature describing sSMC in relation with male and female infertility. Therefore, a systematic literature review on sSMC associated with infertility was conducted by means of a PubMed literature and a sSMC database ( http://ssmc-tl.com/sSMC.html...

... (2003). 14. Vella CM, Shelton LM, McGonagle JJ, Stanglein WT: Robinson's Genetics for Cat Breeders and Veterinarians, ed 4, (Butterworth-Heinemann, Burlington 1999). Cat Infertility Male cat Tortoiseshell cat XXY karyotype Tortoiseshell male cats only occur if a male cat has cells...

...Y. Dong; X.W. Yu; R.X. Wang; L.L. Li; Y.T. Jiang; R.Z. Liu Y chromosome abnormalities are frequently associated with male infertility. Men with ring Y chromosomes can present with sexual infantilism, ambiguous genitalia, hypospadias, or azoospermia. AZF microdeletions can result in spermatogenic...

... that the precise identification of structural Y chromosome aberrations may be clinically important for genetic counseling and assisted reproductive technology treatment. AZF region microdeletions Infertility Structural Y chromosome aberrations The human Y chromosome is one of the smallest human...

...N. Drusenheimer; K. Nayernia; A. Meinhardt; B. Jung; H.-H. Arnold; W. Engel Previous studies showed that in the mouse mutant Lis1 GT/GT gene trap integration in intron 2 of Lis1 gene leads to male infertility in homozygous Lis1 GT/GT mice. We further analyzed this line and could confirm...