Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. [10] These complications commonly include infertility and small, poorly functioning testicles (if present).

Sex chromosomes are chromosomes, or packages of DNA, that are found inside the nucleus of all of your cells. There are two different kinds: X and Y, which determine whether you’re...

2025年3月4日 · XXY syndrome, also known as Klinefelter syndrome (KS), is a genetic condition c haracterized by the presence of an extra X chromosome (47, XXY). Humans have 22 pairs of numbered chromosomes and one pair of sex chromosomes, resulting in a …

Chromosomal studies disclosed a small proportion (3/270) of XXY cells in cultures of blood and testis and no XXY cells (0/39) in culture of skin. The predominant line of cells in all these tissues had 46 chromosomes with XX and no Y chromosome.

Klinefelter syndrome (KS) mosaicism 46,XX/47,XXY is an extremely rare disorder of sex development characterized by the presence of both ovarian and testicular tissues in the same individual. Both elements can be present in the same gonad (ovotestis) ...

Klinefelter Syndrome/XXY is the most common chromosome disorder in males in which the predicted incidence is as high as 1 in 450 male births. This makes it one of the most common chromosomal variations.

2022年12月13日 · In this study, 47,XXY/46,XY/46,XX EBV-immortalized B cells from a single Klinefelter syndrome patient were exploited to generate isogenic human induced pluripotent stem cells (hiPSCs) with different sex chromosome complements.

2023年9月1日 · Assisted reproductive technology, especially micro-testicular sperm extraction, has an important role, especially for those with 47,XXY; however, more recent data show promising techniques for the in vitro maturation of spermatogonial stem cells …

2022年9月28日 · Klinefelter Syndrome (KS) is characterized by a masculine phenotype, supernumerary sex chromosomes (47, XXY), and impaired fertility due to loss of spermatogonial stem cells (SSCs). Early testicular cryopreservation could be an option for future fertility treatments in these patients, including SSCs …

These results support the suggestion that 47,XXY cells are able to go through meiosis and to form spermatozoa. Only 24,XY sperm chromosomal constitutions were observed suggesting a preferential pairing of homologous sex chromosomes in 47,XXY spermatocytes.