Test Background
Deletions in this region have variable expressivity ranging from individuals with mild to moderate intellectual disability, microcephaly, neuropsychiatric disorders, cardiac abnormalities, and cataracts to individuals who are more mildly affected or unaffected. In some cases the deletion was inherited and in others it was de novo. Duplications in this region have variable expressivity ranging from individuals with mild to moderate intellectual disability, autism/autistic behaviors, macrocephaly or relative macrocephaly, cardiac abnormalities, cataracts, and mild dysmorphic features to individuals who are more mildly affected or unaffected. In some cases the deletion was inherited and in others it was de novo. MLPA is utilized to detect this deletion/duplication.
Lab Method
MLPA
