Diploid-triploid mosaicism

Alternate names

Diploid/triploid mosaicism; Diploid/triploid mixoploidy; Mosaic triploidy

Definition

Diploid-triploid mosaicism (DSM) is a genetic condition caused by an abnormal number of chromosomes. DSM occurs when a person has some cells with three copies of each chromosome for a total of 69 chromosomes (triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (diploid cells). Having two or more different cell types is called mosaicism.

File:Pareamento meiótico em triploides.png

Epidemiology

Diploid-triploid mosaicism is very rare. Less than 40 cases have been reported in the literature. The exact number of people with this condition is unknown.

Cause

• Diploid-triploid mosaicism (DSM) occurs when a person has two different types of cells with different numbers of chromosomes.
• In DSM, some cells contain 46 total chromosomes (the usual number) and some cells contain 69 chromosomes (an entire extra set).
• Mosaicism occurs very early in embryonic development.
• The severity of this condition is determined by the percent of cells that have 69 chromosomes.

Signs and symptoms

• The following list includes the most common signs and symptoms in people with diploid-triploid mosaicism.
• These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe.
• This list does not include every symptom or feature that has been described in this condition.

Signs and symptoms may include:

• Growth delay
• Decreased muscle tone (hypotonia)
• Characteristic facial features
• Uneven facial and/or body growth
• Fusion of the fingers or toes (syndactyly)
• Intellectual disability
• Developmental delay

Signs and symptoms of diploid-triploid mosaicism are present at birth. Developmental and intellectual disability may also be present. Some people have feeding problems, unusual skin pigment, and fat around the stomach. Because few people have been reported with diploid-triploid mosaicism, little is known about how it changes throughout someone's life.

Diagnosis

Diploid-triploid mosaicism is diagnosed through a clinical exam, the symptoms, and testing to examine the chromosomes from different types of cells. Testing generally includes a skin biopsy or the investigation of urinary cells.

Treatment

Treatment for diploid-triploid mosaicism is based on managing the symptoms.

Specialists involved in the care of someone with diploid-triploid mosaicism include:

• Medical geneticist
• Neurologist
• Gastroenterologist
• Developmental specialist

NIH genetic and rare disease info

• NIH info on Diploid-triploid mosaicism

Diploid-triploid mosaicism is a rare disease.

Diploid-triploid mosaicism Resources
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