Chromosome 6q deletion

Alternate names

Deletion 6q; Monosomy 6q; 6q deletion; 6q monosomy; Partial monosomy 6q

Definition

Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6.

File:Single Chromosome Mutations.svg

1 deletion, 2 duplication and 3 inversion.

File:Deletion of chromosome section.png

Deletion of chromosome section

File:Human chromosome 6 ideogram.svg

Cause

This condition occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6.

Inheritance

Most cases are not inherited, but people can pass the deletion on to their children.

Signs and symptoms

• The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved.
• Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features.

Diagnosis

Chromosome disorders may be suspected in people who have developmental delays, intellectual disabilities and/or physical abnormalities.

Several types of genetic tests can identify chromosome disorders:

• Karyotyping
• Microarray (also called array CGH)
• Fluorescence in situ hybridization (FISH)

Treatment

Treatment is based on the signs and symptoms present in each person.

NIH genetic and rare disease info

• NIH info on Chromosome 6q deletion

Chromosome 6q deletion is a rare disease.

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