Klinefelter syndrome is also called XXY syndrome or 47, XXY. This condition is characterised by the presence of an extra X Chromosomes in males instead of usual male genotype XY, and is associated with several physical and developmental abnormalities.
Defected males have small testes and produce less restaurant due to which physical development is highly affected and the developed several feminine characteristics.The grew taller than average and Develop enlarge breast(gynaecomastia ) broader hips Lesser body hair Oligospermia and infertilityGenital defect may also include undescended testes and underdeveloped penis (micropenis).
Children with klinefelter syndrome show delay in cognitive development learning disabilities and difficulties in speech and language development.
The frequency of occurrence of clsyndrome in a population is about 1000 Male birth.
Klinefelter syndrome was identified symptomatically by Harry Klinefelter in 1940, however it wad in 1956 when it cause was attributed to the presence of an extra copy of X chromosomes.
The intensity of symptom of klinefelter syndrome was among individuals. other variance of klinefelter syndrome also exist the very rare which may be characterized by 48 , XXXY or 49 , XXXXY.
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In such cases the symptoms are more severe causing developmental delays Intellectual disabilities, Physical abnormalities and Increased risk of disease.
The appearance of extra X chromosome is due to meiotic abnormality is occurring during male gamete formation.
A gamete with extra X chromosomes may contribute to the additional copy of X in zygote and fertilization with normal gamete.
All the cells of an embryo will then receive this extra Copy And the male child will develop klinefelter syndrome.
Mosaicism is also seen in this syndrome in which the extra X chromosomes come into existence due to abnormal cell division during embryonic development.
This results into 47,XXY condition only in some cells other body cells being normal (46, XY).