Mosaic trisomy 8

Alternate names

Mosaic trisomy chromosome 8; Trisomy 8 mosaicism

Definition

Mosaic trisomy 8 is a chromosomal abnormality that can affect many parts of the body. In individuals with mosaic trisomy 8, some of the body's cells have three copies of chromosome 8 (trisomy), while other cells have the usual two copies of this chromosome.

Epidemiology

• Mosaic trisomy 8 is a rare condition which affects only 1 in every 25,000 to 50,000 liveborn babies.
• It affects males more often than females.
• More than 120 people with this condition have been reported in the medical literature.

Cause

• Most cases of mosaic trisomy 8 occur due to a random event during the formation of the reproductive cells (egg and sperm) or after fertilization has taken place.
• An error in cell division (called nondisjunction) may cause some eggs or sperm to have an abnormal number of chromosomes.
• If an egg or sperm with an extra chromosome 8 contributes to the genetic makeup of an embryo, the embryo will have an extra copy of chromosome 8 in each cell.
• As the embryo grows and divides, an attempt may be made to correct the mistake by eliminating one extra chromosome 8.
• In individuals with mosaic trisomy 8, this attempt may be partly successful, leaving some cells with an extra chromosome 8 and some cells with the extra chromosome deleted (the usual chromosome number).
• This correction process is called trisomy rescue.

• In other cases, the egg and sperm may have a normal number of chromosomes, but an error of cell division (nondisjunction) occurs when the fertilized egg is growing and dividing.
• If an error occurs during one of the divisions, it can cause some cells to have an abnormal number of chromosomes.
• In people affected by mosaic trisomy 8, some of the body's cells have the usual two copies of chromosome 8, and other cells have three copies of this chromosome (trisomy).
• The percentage of cells with trisomy 8 and which parts of the body are affected vary from person to person. This leads to variability in the range and severity of symptoms.

Inheritance

Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm).

Signs and symptoms

The signs and symptoms of mosaic trisomy 8 vary but may include:

• Characteristic facial features such as elongation of the skull (scaphocephaly), prominent forehead, widely-spaced eyes, deeply set eyes, broad upturned nose, and micrognathia
• Brain malformations such as agenesis of the corpus callosum
• Highly arched or cleft palate
• Shortened neck with extra skin folds
• Long slim body with a narrow chest, shoulders, and pelvis
• Kidney and cardiac abnormalities
• Camptodactyly and stiff joints
• Absent malformed kneecap
• Vertebral malformations such as scoliosis
• Eye abnormalities

• Most individuals with mosaic trisomy 8 have moderate intellectual disabilities (IQ between 50 and 75), with some people having a normal intelligence. There is no known connection between the percentage of trisomic cells and the severity of the intellectual disability.
• Mosaic trisomy 8 also may increase the risk for infections, and seems to increase the risk for certain cancers such as Wilms tumor, myelodysplasia, and acute myeloid leukemia.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Intellectual disability, moderate(IQ between 34 and 49)

30%-79% of people have these symptoms

• Abnormality of the antihelix
• Abnormality of the ribs(Rib abnormalities)
• Broad nasal tip(Broad tip of nose)
• Camptodactyly of finger(Permanent flexion of the finger)
• Corneal opacity
• Deep palmar crease(Deep palm line)
• Deep plantar creases(Deep wrinkles in soles of feet)
• Deeply set eye(Deep set eye)
• Dolichocephaly(Long, narrow head)
• Frontal bossing
• Hydronephrosis
• Hypertelorism(Wide-set eyes)
• Limitation of joint mobility(Decreased joint mobility)
• Long face(Elongation of face)
• Macrotia(Large ears)
• Micrognathia(Little lower jaw)
• Narrow chest(Low chest circumference)
• Narrow pelvis bone
• Patellar aplasia(Absent kneecap)
• Protruding ear(Prominent ear)
• Scoliosis
• Strabismus(Cross-eyed)
• Vertebral segmentation defect
• Vesicoureteral reflux
• Wide nose(Broad nose)

5%-29% of people have these symptoms

• Abnormality of cardiovascular system morphology
• Agenesis of corpus callosum
• Arthrogryposis multiplex congenita
• Cleft palate(Cleft roof of mouth)
• Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
• Cryptorchidism(Undescended testes)
• Decreased testicular size(Small testes)
• Hearing impairment(Deafness)
• High palate(Elevated palate)
• Hypopigmented skin patches(Patchy loss of skin color)
• Short neck(Decreased length of neck)
• Short stature(Decreased body height)
• Tall stature(Increased body height)

Diagnosis

Diagnosis is based on analysis of chromosomes via genetic testing, such as karyotype.

Treatment

• Because mosaic trisomy 8 affects many different areas of the body, medical management often involves a team of doctors and other healthcare professionals. Treatment for mosaic trisomy 8 varies depending on the signs and symptoms present in each individual.
• For example, for individuals with delays in motor skills such as walking, physical therapy or occupational therapy may be helpful.
• Early intervention and special education may be recommended depending on the degree of intellectual disability.
• If present, cleft palate, cardiac malformations, and kidney malformations may need to be surgically repaired.
• Other surgeries and interventions may be needed depending on the nature and severity of the other features and their symptoms.

NIH genetic and rare disease info

• NIH info on Mosaic trisomy 8

Mosaic trisomy 8 is a rare disease.

Mosaic trisomy 8 Resources
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