title: 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.
  
  
  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 probe amplification (MLPA) technique.
  
  
  RESULTS
  In our study, 15/378 (3.97%) patients with palatal anomalies showed 22q11.2 deletion. Interestingly, this prevalence between syndromic patients was 15/104 (14.42%).
  
  
  CONCLUSIONS
  It seems that SMCP or VPI, in addition to one or more another features of 22q11.2 deletions, especially developmental delay, may be good criteria for molecular investigation of 22q11.2 region.
authors.affiliation: Isfahan Cleft Lip and Palate Clinic, Faculty of Rehabilitation, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Narges
authors.initials: N
authors.lastname: Nouri
authors.affiliation: Isfahan Cleft Lip and Palate Clinic, Faculty of Rehabilitation, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Pediatric Surgery, Emam Hossein University Hospital, Isfahan, Iran.
authors.forename: Mehrdad
authors.initials: M
authors.lastname: Memarzadeh
authors.affiliation: Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan, Iran.
authors.forename: Mansoor
authors.initials: M
authors.lastname: Salehi
authors.affiliation: Isfahan Cleft Lip and Palate Clinic, Faculty of Rehabilitation, Isfahan University of Medical Sciences, Isfahan, Iran; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan, Iran.
authors.forename: Nayereh
authors.initials: N
authors.lastname: Nouri
authors.affiliation: Department of Medical Sciences, Najafabad Branch, Islamic Azad University, Isfahan, Iran; Isfahan Neurosciences Research Center, Alzahra Hospital, Isfahan, Iran.
authors.forename: Rokhsareh
authors.initials: R
authors.lastname: Meamar
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan, Iran.
authors.forename: Mahdiyeh
authors.initials: M
authors.lastname: Behnam
authors.affiliation: Isfahan Cleft Lip and Palate Clinic, Faculty of Rehabilitation, Isfahan University of Medical Sciences, Isfahan, Iran; Faculty of Rehabilitation, Speech Language Pathologist of Isfahan Cleft Care Team, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Derakhshandeh
authors.affiliation: Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Tahereh
authors.initials: T
authors.lastname: Kashkoolinejad
authors.affiliation: Isfahan Cleft Lip and Palate Clinic, Faculty of Rehabilitation, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Surgery, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Abdali
keywords: Chromosome 22q11.2 deletion syndrome; DiGeorge syndrome; Iranian; cleft palate; developmental delay