General
Chromosome 13q deletion is a chromosomal abnormality that occurs when a copy of genetic material is missing from the long arm (q) of chromosome 13. The severity of the condition and its symptoms depend on the size and location of the deletion and which genes are involved. Common features in individuals with chromosome 13q deletion include developmental delay, intellectual disability, behavioral problems, and distinct facial features.
Diagnosis:
Chromosomal testing of both parents may provide more information about whether the deletion was inherited. In most cases, parents do not have any chromosomal abnormality. However, sometimes one parent is found to have a balanced translocation, where a segment of a chromosome has broken off and attached to another chromosome without any loss or gain of genetic material. A balanced translocation usually does not cause symptoms, but it increases the risk of having an affected child with a chromosomal abnormality such as a deletion.
Treatment:
Treatment is symptomatic, based on the signs and symptoms present in each individual.
- developmental delay
- intellectual disability (various degrees)
- behavioral problems
- distinctive facial features
People with the diagnosis
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