Infertility is almost universal in nonmosaic cases, although the success rate of reproductive technologies such as intracytoplasmic sperm injection in adult men with XXY is rapidly increasing. Affected adult men also have increased risks for breast cancer, osteoporosis, diabetes, hypothyroidism, and ...
In one study, mosaic trisomy X (such as 45,X/47,XXX) did not demonstrate a significant age-dependent correlation, suggesting that cases of mosaicism may result from a post-zygotic nondisjunction event [59]. However, cases of 46,XX/47,XXX and 45,X/47,XXX mosaicism may also result from ...
These transmission risks apply only to women with non-mosaic 47,XXX, as mosaicism may increase the risk of X aneuploidy and potential outcomes, so each scenario should be considered individually [3, 72, 73]. Management Evaluation and treatment recommendations depend on the age of the patient ...
In individuals carrying mosaic trisomy 18 (less than 5% of cases), both a complete trisomy 18 and a normal cell line exist. The phenotype is extremely variable, ranging from complete trisomy 18 phenotype with early mortality to apparently phenotypically normal adults, in which the mosaicism is de...
It is characterized by the presence of an extra copy of chromosome 21 and can result from various genetic abnormalities such as mater‑ nal non-disjunction, mosaic karyotype, Robertsonian translocation, or partial duplication of the critical region of chromosome 21(Hoeffer et al. 2007; Anton...
i had a mosaic karyotype: 45,XX,-15,-15,+t(15; 15)(pll.l;qll.2)/46,XX,-15,-15,+t(15;15)(pll.l;qll.2),+r(15)(pll.l:: qll.2). The t(15;15) chromosome retained apparently intact qll.2 bands in both arms. Karyotype of patient No. 2 was 47,XX,del(15)(pter+q...