Monosomy disorder
Cells have only one copy of a chromosome
Monosomy is a type of chromosomal disorder that occurs when an individual is missing one chromosome from a pair. In other words, an individual with monosomy has only one copy of a particular chromosome instead of the normal two copies.
Monosomy can occur due to various reasons, including inheritance, errors during cell division, and other genetic abnormalities. The most well-known monosomy disorder is Turner syndrome, which occurs when an individual has only one X chromosome, instead of the normal pair of XX chromosomes. Turner syndrome affects females and can result in a variety of physical and developmental symptoms, including short stature, webbed neck, infertility, and cardiovascular problems.
Other examples of monosomy disorders include:
– Cri du Chat syndrome (5p- syndrome): occurs when a small part of chromosome 5 is missing, resulting in intellectual disability, developmental delay, and characteristic facial features.
– Monosomy Xp: occurs when part or all of the short arm of the X chromosome is missing and can result in developmental delay, intellectual disability, and physical abnormalities affecting the face, head, and limbs.
Monosomy disorders are generally rare, and there is currently no cure for these conditions. However, treatment may involve managing symptoms and providing supportive care based on the individual’s specific needs. Genetic counseling may also be recommended to evaluate the risk of passing the condition on to future generations.
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