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Klinefelter syndrome (ks), also known as 47,xxy, is a chromosome anomaly where a male has an extra x chromosome The phenotype is variable and can manifest as developmental delay, passivity and learning difficulties in childhood, and leads to hypergonadotropic hypogonadism, underdeveloped secondary sexual characteristics and azoospermia at puberty. [10] the complications commonly include infertility and small, poorly functioning testicles (if present).
Karyotype of a patient with Klinefelter syndrome: 47, XXY. | Download Scientific Diagram
47,xxy (klinefelter syndrome) is a chromosomal variation in males where one extra x chromosome is present which then results in a 47,xxy Klinefelter syndrome (47,xxy syndrome) occurs in about 1 in 1,000 male newborns, with 80% having a pure 47,xxy karyotype The extra x chromosome typically affects physical, neurodevelopmental, behavioral and neurocognitive functioning.
Klinefelter syndrome is a genetic condition that affects males and is characterized by the presence of 2 or more x chromosomes
The clinical phenotype was first described in 1942 by american physician dr Harry klinefelter.[1] affected individuals often present with tall stature, small testes, gynecomastia, and azoospermia The genetic etiology—supernumerary x chromosomes, typically 47,xxy. Klinefelter syndrome description klinefelter syndrome, also called 47,xxy, is a chromosomal condition that affects male development
The signs and symptoms of klinefelter syndrome vary In some cases, the features are so mild that the condition is not diagnosed until puberty or adulthood. What is klinefelter syndrome (also called 47,xxy) Klinefelter syndrome is a genetic condition that occurs when a male is born with at least one extra x chromosome
While most people assigned male at birth have an xy karyotype, individuals with klinefelter syndrome typically have an xxy pattern.
