Omid Nejati - Bahman Hospital- Medical and Pathological laboratory - Islamic Azad University of Mashhad, Iran
Omid Nejati - Bahman Hospital- Medical and Pathological laboratory - Islamic Azad University of Mashhad, Iran
Tahereh Gholamrezapoor - Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
Mansoor Salehi - Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran

Background and Aim : 22q11.2 deletion syndrome (the other names include: velocardiofacial syndrome, velo-cardio-facial syndrome, DiGeorge syndrome, autosomal dominant Opitz G/BBB syndrome, ….) is a chromosomal disorder caused by a heterozygous deletion of part of the long arm (q) of chromosome 22, region 1, band 1, sub-band 2 (22q11.2) that it occurs near the middle of the chromosome at a location designated q11.2. ). Approximately 80-90% of patients have a deletion of 3Mb and 8% have a deletion of 1.5 Mb . The number of genes affected by the deletion has been cited as approximately 30 to 50 that has been shown to be implicated in cardiac, parathyroid, thymus and facial structure development. The inheritance of 22q11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition.Methods : in 60 patients with the criteria for lip and palate cleft diagnosed by physician, blood samples were isolated and DNA extraction was done. Screening for Deletion 22q11.2 syndrome was performed by multiplex ligation-dependent probe amplification (MLPA) . Results : Among 60 patients 22(36.66%) had 22q11.2 deletion. These patients with this deletion were affected with VCF.Conclusion : overall, Our data indicate other genes or gene interactions may play a prominent role in cleft palate among patients with DGS and VCF syndrome. Genetic counseling is recommended for families with an affected child . Once present though there is a 50% chance for a person with this contiguous deletion to have an affected child. With this in mind, a variety of prenatal monitoring techniques, as well as, preimplantation genetic diagnosis are available depending on the specific level of risk.

Deletion 22q11.2 syndrome - MLPA - VCF