Monosomy

Monosomy is a type of chromosomal abnormality in which there is loss of one chromosome from a normal diploid organism. This can occur in any chromosome, but is most commonly seen in the sex chromosomes. Monosomy can lead to a variety of genetic disorders, depending on the specific chromosome that is missing.

Causes

Monosomy can occur due to a variety of reasons. The most common cause is nondisjunction, which is the failure of a pair of chromosomes to separate properly during meiosis. This can result in one gamete receiving two copies of a chromosome and the other receiving none. If a gamete missing a chromosome fertilizes with a normal gamete, the resulting offspring will have monosomy.

Types

There are several types of monosomy, including:

• Turner syndrome: This is a condition in which a female is missing one X chromosome. Symptoms can include short stature, infertility, and heart defects.

• Cri du chat syndrome: This is caused by a deletion of the short arm of chromosome 5. Symptoms can include intellectual disability, delayed development, and a distinctive cry that sounds like a cat.

Diagnosis

Monosomy can be diagnosed through a variety of methods, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH).

Treatment

There is currently no cure for monosomy. Treatment typically focuses on managing symptoms and improving quality of life. This can include physical therapy, speech therapy, and educational support.

See also

• Trisomy
• Chromosome abnormality
• Genetic disorder

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Monosomy

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  Human karyotype with bands and sub-bands