Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate.
作者： Hossein Abdali , Narges Nouri , Mehrdad Memarzadeh , Mansoor Salehi , Nayereh Nouri
关键词: Multiplex ligation-dependent probe amplification 、 Dentistry 、 Abnormality 、 Palatal anomalies 、 Pediatrics 、 Medicine 、 Genetic disorder 、 22q11 2 microdeletion 、 Velopharyngeal incompetence 、 Microdeletion syndrome 、 DiGeorge syndrome
摘要: 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 deletion syndromes in infants would be very helpful early diagnosis treatment. Materials Methods: Since 69% individuals have a palatal abnormality, we studied prevalence 378 Iranian patients during 5-year period, including 291 affected palate only without lip (CPO) 87 velopharyngeal incompetence (VPI) and/or submucous (SMCP). DNA copy number was analyzed multiplex ligation-dependent probe amplification (MLPA) technique. Results: In our study, 15/378 (3.97%) anomalies showed deletion. Interestingly, this between syndromic 15/104 (14.42%). Conclusion: It seems that SMCP or VPI, addition to one more another features deletions, especially delay, may good molecular investigation region.
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