Individuals with 22q11.2 deletion syndrome have a range of features including congenital heart defects, palate abnormalities, feeding difficulties, characteristic facial features, hypocalcemia and learning disabilities. 75% of individuals with 22q11.2 deletion syndrome also have immune deficiency and recurrent infections. Characteristic facial features can include auricular abnormalities, hooded eyelids, hypertelorism, cleft lip and palate. However, in individuals with 22q11.2 deletion syndrome, features can vary widely, even among affected family members.
Children with 22q11.2 deletion syndrome can have developmental delays. They often achieve motor and speech milestones later than children in the general population. The mean age for walking is 18 months and many 2-3 year olds are nonverbal. They also can have learning disabilities and are more likely to have attention deficit hyperactivity disorder (ADHD). Recent studies have shown an increase in the rates of mental illness such as bipolar disorder and schizophrenia in these individuals as they age.
22q11.2 deletion syndrome is inherited in an autosomal dominant manner. Approximately 93% of cases are a de novo occurrence and approximately 7% of cases are inherited from a parent. In inherited cases, other family members may also have features of the syndrome as well, but may not be diagnosed. This deletion is present in approximately 1 in 4000 live births; however, because of the variability seen with this condition, it may be under diagnosed.
- Cleft palate
- Characteristic facial features such as hypertelorism
- Heart defect
- Learning disabilities
- Immune deficiencies
- Autism spectrum disorder
Type: Whole Blood
In sodium heparin (green top) tube:
Infants (Children less than 6 months): 3-5 ml
Older Children & Adults: Metaphase FISH analysis is required
Specimen Collection and Shipping: Ship sample at room temperature for receipt at EGL within 24 hours of collection. Do not refrigerate or freeze.
- Chromosomal Microarray, EmArray Cyto (VA)
- Chromosome Analysis (CA/CB)