ALTERNATE NAMES

Full Trisomy 9: Full Trisomy 9

Mosaic Trisomy 9: Mosaic Trisomy 9; Mosaicism Syndrome

DESCRIPTION

Trisomy 9 is a congenital impairment in which the body’s cells contain an extra copy of all or part of Chromosome 9, resulting in serious effects on growth and function of a broad array of body systems.

Signs and symptoms vary from person to person depending on the percentage of affected cells, and what portion of the chromosome is duplicated. Typical signs and symptoms include severe intellectual deficit, developmental delay, growth issues, congenital heart defects, and craniofacial abnormalities.

There are three types of Trisomy 9:

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  When all cells contain three copies of the extra chromosome, this is known as Full Trisomy 9.

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  Cases in which some cells contain an additional copy of the entire chromosome are designated as Mosaic Trisomy 9.

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  Cases in which cells have two full copies of Chromosome 9 and part of an additional third partial copy are designated as Partial Trisomy 9.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Trisomy 9 can be diagnosed prenatally via ultrasound or fetal tissue sampling. Postnatal confirmation can involve chromosomal testing and physical examination.

Physical findings: Physical signs and symptoms of Trisomy 9 may include:

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  Misshapen skull and skeletal structure;

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  Facial deformities;

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  Short stature and limbs;

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  Hearing and vision impairment;

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  Difficulty with balance and mobility;

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  Structural malformations of the heart; or

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  Intellectual and developmental delay.

ICD-9: 758.5

ICD-10: Q92.1 (Mosaic); Q92.9 (Full)

PROGRESSION

Developmental effects of Trisomy 9 can be observed in the fetus prior to birth.

Full Trisomy 9 is almost always fatal, causing a miscarriage.

Mosaic Trisomy 9 usually results in death in early infancy, and rarely, some infants live beyond the first year of life.

Partial Trisomy 9 does not always affect the life expectancy of an infant. With appropriate management, individuals with Partial Trisomy 9 may survive to adulthood. However, infants with Partial Trisomy 9 have a range of health problems and developmental delays.

TREATMENT

There is no cure for Trisomy 9. Treatment is symptomatic and supportive.

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment; and

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  Laboratory tests confirming presence and extent of chromosomal duplication.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

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