Monosomy 9p

Monosomy 9p

Monosomy 9p (pronounced: mon-oh-soh-mee nine pee) is a rare chromosomal disorder where a portion of the 9th chromosome's short arm (p) is missing or deleted.

Etymology

The term "Monosomy 9p" is derived from the Greek words 'mono' meaning 'one' and 'somy' referring to 'body' or 'chromosome'. The '9p' indicates the specific location of the chromosomal abnormality, which is on the short arm (p) of the 9th chromosome.

Definition

Monosomy 9p is characterized by a deletion of genetic material from the short arm of chromosome 9. This deletion leads to a variety of physical and developmental abnormalities, including intellectual disability, growth retardation, and distinctive facial features.

Symptoms

The symptoms of Monosomy 9p can vary greatly from person to person. However, common symptoms often include:

• Intellectual disability
• Growth retardation
• Distinctive facial features such as a broad nasal bridge, low-set ears, and a thin upper lip
• Heart defects
• Kidney abnormalities

Diagnosis

Monosomy 9p is typically diagnosed through a genetic test known as a karyotype. This test involves examining the chromosomes in a sample of blood, bone marrow, or amniotic fluid.

Treatment

There is currently no cure for Monosomy 9p. Treatment is symptomatic and supportive, often involving a team of specialists to address the various symptoms and complications. This may include physical therapy, speech therapy, and educational support.

Related Terms

• Chromosome
• Chromosomal deletion
• Genetic disorder
• Karyotype

External links

• Medical encyclopedia article on Monosomy 9p
• Wikipedia's article - Monosomy 9p

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