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Supernumerary Chromosome 8 Syndrome (Genetic Disorder)

Name of disease:

Supernumerary Chromosome 8 (Genetic Disorder)

ICD-10 diagnosis code:

Q93.2

Causes:

Human cells normally contain 23 pairs of chromosomes, for a total of 46 chromosomes in each cell. Supernumerary chromosome 8 means that there is a tiny extra part of a chromosome, which is made from chromosome 8 material, in all or some of the cells of the body. The small extra chromosome 8 can have different possible shapes such as ring, inverted duplication or tiny. The cause is unknown.

Mode of inheritance:

Diagnosis:

Children can inherit the extra chromosome. The chance of inheriting a small supernumerary chromosome from one’s mother is twice as high as from one’s father. There are also sporadic cases.

Prevalence

Less than 1 / 1,000,000

Diagnosis:

Fluorescence in situ Hybridization (FISH) - a laboratory technique for detecting and locating a specific DNA sequence on a chromosome. Microarrays - a way of analysing thousands of different DNA sequences at the same time

Age of onset:

Infant stage

Common signs and symptoms:

Abnormality of the palate Upturned nose Abnormality of the ureter Deviation of finger Prominent eye folds

Available treatments (medicinal and non-medicinal):

Currently, there is no specific treatment for the disease. Only the medical issues caused by the condition can be addressed.

Disease management tips:

N/A

References:

https://www.rarechromo.org/media/information/Chromosome%20%208/Supernumerary%20chromosome%208%20FTNW.pdf https://www.genome.gov/genetics-glossary/Fluorescence-In-Situ-Hybridization https://rarediseases.info.nih.gov/diseases/1347/ring-chromosome-8

Other useful websites:

N/A