What is mosaicism?
Mosaicism is a state where the cells of the individual are genetically variegated. This condition is also known as Gonadal or Chromosomal Mosaic, and can affect any type of cell. Due to the wrong division of cells in the uterus, treatment is dependent on the type of genetic condition. The prognosis of an individual with a mosaic depends on how its organs and tissues are affected. Mosaicism can manifest itself as a number of syndromes such as Turner, Krinefelter and down. The symptoms associated with these conditions are difficult to predict and differ in severity. Usually each sex has 46 chromosomes, while males have XY pairing and women xx pairing. If the individual has a form of mosaic, pairing or the number of chromosomes may be abnormal.
Turner syndrome is a state that affects women and results from the absence of the usual chromosome pair XX. Cells inside the individual are missing either part or the only chromosome X. The symptoms of Turner syndrome include short height, absence of menstruation and wide flat chest. Infants with a tourRun syndrome can have a wide, web neck or spread hands and legs.
The tests performed to confirm the diagnosis of this condition may include echocardiogram, pelvic test and ultrasound of the kidneys and reproductive organs. Treatment of Turner syndrome may include estrogen substitution therapy and growth hormone. Complications associated with Turner syndrome include obesity, hypertension and kidney problems.clinfelter syndrome is characterized by the presence of another x chromosome in a male with a normal XY chromosomal structure. Males with this condition may have symptoms including small genitalia, unusually proportional limbs and body deficiency. In some cases, the Krinefelter may not affect the adulthood, when infertility problems may occur.
Tests used to confirm the diagnosis of clinfelter syndrome include the number of sperm and blood tests for measuring levels Hthe affairs of men. Treatment of this condition may include testosterone therapy. Men with clinfelter syndrome may have complications including depression, learning disabilities or development of autoimmune disorders such as rheumatoid arthritis or lupus.
individuals with Down syndrome have another chromosome, which is in most cases Chromosome 21. It is also called trisomy 21, this form of mosaic is the most common cause of congenital defects. Those with this condition may show a number of symptoms that differ in severity. Common physical indicators of this condition include azploštý nose, small features, wide hands and abnormally shaped head. The features of this condition go beyond physical to affect emotional, social and sometimes psychological development.
Delayed development that children with Down syndrome can contribute to problems such as learning disabilities, impulsive behavior and extent of impulsive attention. Frustration and anger over their delayed development may occur in behavior problems, including aggression. He knows themMO that secondary conditions, including hypothyroidism, heart defects and joint problems appear.
Initial diagnosis of Down syndrome is generally performed at birth, but further tests may be given for confirmation. Tests are usually used, including echocardiogram, blood tests for chromosomal analysis and chest X -rays. Individuals with this form of mosaic must be monitored as preventive measures to examine the development of secondary conditions. Although there is no Downo treatment, individuals with congenital defects may require to restore and promote the functionality of correctional surgery. Complications associated with this condition include hearing and vision problems, heart and gastrointestinal problems and sleep apnea.