Klinefelter syndrome also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males. Apart from 47,XXY there also 48,XXXY and 49,XXXXY types exist. This is called as variants of Klinefelter syndrome. Klinefelter syndrome is a form of primary testicular failure, with elevated gonadotropin levels due to lack of […]
Fragile X syndrome an X-linked disorder caused by expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome. X-linked dominant – males are more severely affected by this disorder than females. It is the most common inherited form of mental retardation and second only to Down’s […]
Turner syndrome (gonadal dysgenesis – 45,X) is a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms Short stature Lymphedema of the hands and feet of a newborn Broad chest and widely spaced nipples Protruding ears (low set ears) Low Posterior hairline Reproductive sterility Rudimentary ovaries gonadal streak (underdeveloped […]
DiGeorge syndrome is also known as 22q11.2 deletion syndrome, DiGeorge anomaly, velocardiofacial syndrome (VCFS), Shprintzen syndrome, conotruncal anomaly face syndrome or Takao syndrome,Sedlackova syndrome, Cayler cardiofacial syndrome,Strong syndrome, congenital thymic aplasia, and thymic hypoplasia.