What happens in deletion syndrome?
2 deletion syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems. The number and severity of symptoms associated with 22q11.
What causes gene deletion?
Deletions occur when there is homologous but unequal recombination between gene sequences. Similar sequences in the human genome can cross over during mitosis or meiosis, resulting in a shortened portion of the gene sequence.
What are the signs and symptoms of chromosome 10q deletion?
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 10q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. [1]
Where can I find information about 10q25 and 10q26 deletions?
Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about 10q25 and 10q26 deletions. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.
What is Salviati’s report on interstitial deletion of chromosome 10?
Salviati et al. (2006) reported a patient who had an interstitial deletion of chromosome 10 that was associated with a significantly milder phenotype than the patients reported by Delnatte et al. (2006). She had mildly dysmorphic features and developmental delay. Her first episode of mild rectal bleeding occurred at the age of 5 years.
What are the features of microdeletion syndrome (MDS)?
The features of 10q22.3q23.2 microdeletion syndrome appear to be quite variable. Most commonly individuals with this microdelation have mild distinct facial features and speech and language delay, but the latter ranges from normal to severe.