Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate.

ABSTRACT:

Background

22q11.2 microdeletion syndrome is the most common multiple genetic disorder associated with learning disabilities, developmental delays, immune deficiency, hypocalcemia, and cleft palate. Finding some valid criteria for screening of 22q11.2 deletion syndromes in infants would be very helpful in early diagnosis and treatment.

Materials and methods

Since 69% of individuals with 22q11.2 deletion have a palatal abnormality, we studied the prevalence of 22q11.2 deletion syndrome in 378 Iranian patients during a 5-year period, including 291 patients affected with cleft palate only without cleft lip (CPO) and 87 patients affected with velopharyngeal incompetence (VPI) and/or submucous cleft palate (SMCP). DNA copy number was analyzed with multiplex ligation-dependent pro

SUBMITTER: Nouri N 

PROVIDER: S-EPMC5220684 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature