Chromosomal syndromes are genetic alterations that occur due to the presence of an abnormal number of chromosomes in a cell. These conditions can have a significant impact on the health and development of people who suffer from them. In this article, we will explore the 15 most important chromosomal syndromes, their characteristics, causes and consequences.
Down Syndrome
Down Syndrome Down is one of the best known and most common chromosomal syndromes. Also known as trisomy 21, it is characterized by the presence of an extra copy of chromosome 21. People with this syndrome often have distinctive facial features, intellectual disabilities, and certain health problems, such as congenital heart disease.
Syndrome Turner Syndrome
Turner Syndrome affects exclusively women and is caused by the total or partial absence of one of the X chromosomes. Women with this syndrome usually have short stature, kidney and thyroid problems and difficulties with learning. They also often have distinctive physical characteristics, such as a short neck and neck folds.
Klinefelter Syndrome
Klinefelter Syndrome occurs in men who have an extra copy of the X chromosome, resulting in a 47,XXY karyotype instead of the typical 46,XY. Men with this syndrome may experience infertility, low testosterone, learning difficulties, and certain physical characteristics, such as gynecomastia.
Edwards Syndrome
Edwards Syndrome, also known as trisomy 18 , is caused by the presence of an extra copy of chromosome 18. This syndrome is associated with severe congenital malformations, growth retardation, severe intellectual disability, and a high mortality rate in childhood.
Syndrome Patau
Patau Syndrome, or trisomy 13, is caused by the presence of an extra copy of chromosome 13. People with this syndrome usually have severe congenital malformations, developmental delays, nervous system problems and a greatly reduced life expectancy.
Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome is a rare genetic disease caused by a deletion in the short arm of chromosome 4. It is characterized by developmental delay, intellectual disability, distinctive facial features, and health problems such as heart abnormalities and seizures.
Cri-du-Chat Syndrome
Cri Syndrome -du-Chat is a rare genetic disease caused by a deletion in the short arm of chromosome 5. It is characterized by a cry similar to a cat's meow in newborns, developmental delay, intellectual disability, and distinctive facial features, such as microcephaly and fissures in the eyes.
Angelman Syndrome
Angelman Syndrome is a genetic disease caused by the loss of function of the UBE3A gene on chromosome 15. It is characterized by developmental delay, intellectual disability, balance and coordination problems, as well as a happy and energetic behavior.
Prader-Willi Syndrome
Prader-Willi Syndrome is a disease genetics caused by loss of gene expression on paternal chromosome 15. It is characterized by hypotonia in childhood, feeding difficulties, obesity, short stature, intellectual disability and behavioral problems, such as obsession with food.
Williams Syndrome
Williams Syndrome Williams is a genetic disease caused by a deletion on chromosome 7. It is characterized by unique facial features, congenital heart problems, developmental delay, mild to moderate intellectual disability, and exceptional language abilities.
Down syndrome Mosaic
Mosaic Down Syndrome is a variant of Down Syndrome in which not all cells in the body have trisomy 21. This results in a variable clinical presentation, with some people showing fewer typical features of Down syndrome. condition and greater intellectual functioning.
Turner Mosaic Syndrome
Turner Mosaic Syndrome is a rare form of Turner Syndrome in which some cells have the typical karyotype of 45 , X and other cells have a different karyotype, such as 46, XX. This can result in a variable clinical presentation, with less severe manifestations than in classic Turner Syndrome.
Triple X Syndrome
Triple X Syndrome occurs in women who have an extra copy of the X chromosome, resulting in a 47, XXX karyotype. Women with this syndrome are usually tall and may have distinctive physical characteristics, such as long hands and feet. Some women with this syndrome may experience learning difficulties and health problems, such as kidney problems.
XYY Syndrome
XYY Syndrome occurs in men who have an extra copy of the Y chromosome, resulting in a 47, XYY karyotype. Although most men with this syndrome do not have distinguishing physical characteristics, some may experience learning difficulties, behavioral problems, and be at increased risk for certain medical conditions, such as autism spectrum disorders.
Autism syndrome Jacobsen
Jacobsen Syndrome is a genetic disease caused by a deletion in the long arm of chromosome 11. It is characterized by developmental delay, intellectual disability, behavioral problems, and certain physical abnormalities, such as characteristic facies. and cardiac malformations.
In conclusion, chromosomal syndromes are complex genetic conditions that can have a significant impact on the health and development of people who suffer from them. It is important to have an accurate diagnosis and adequate management of the complications associated with each syndrome to improve the quality of life of those affected and provide them with the necessary support to reach their maximum potential.