Molecular Screening for 22Q11.2 Deletion Syndrome in Patients With Congenital Heart Disease.

[22q11.2 deletion syndrome]

Few studies have investigated the prevalence of 22 q 11 .2 deletion syndrome (22 q 11 .2 DS ) among patients with isolated heart defects or nonconotruncal heart defects . Polymerase chain reaction (PCR ) followed by length polymorphism restriction fragment analysis (RFLP ) is useful for low -cost molecular diagnosis and screening . This cross-sectional study included 392 patients with congenital heart disease , described clinical features , and performed PCR-RFLP for analysis of polymorphism in three loci with a high heterozygosity rate located in the typically deleted region of 1 .5 megabases . Heterozygosity excluded 22 q 11 .2 DS . Patients with homozygosity for the three markers underwent multiplex ligation-dependent probe amplification (MLPA ) and fluorescence in situ hybridization (FISH ) for the final diagnosis , estimating the prevalence of 22 q 11 .2 DS . The use of PCR-RFLP excluded 22 q 11 .2 DS in 81 .6 Â % (n Â =Â 320 ) of 392 patients . Of the remaining 72 patients , 65 underwent MLPA , showing 22 q 11 .2 DS in five cases (prevalence , 1 .27 Â %). Four of these five patients underwent FISH , confirming the MLPA results . All five patients with the deletion had heart diseases commonly found with 22 q 11 .2 DS (interrupted aortic arch , persistent truncus arteriosus , tetralogy of Fallot , and ventricular septal defect plus atrial septal defect ). Two patients had congenital extracardiac anomaly (one with arched palate and micrognathia and one with hypertelorism ). Three patients reported recurrent respiratory infections , and one patient reported hypocalcemia . All were underweight or short in stature for their age . This study contributed to showing the prevalence of 22 q 11 .2 DS in patients with any congenital heart disease , with or without other features of the syndrome . Patients with 22 q 11 .2 DS may not have all the major features of the syndrome , and those that are found may be due to the heart defect .

Diseases
Validation

Diseases presenting "heart defects" symptom

22q11.2 deletion syndrome

cohen syndrome

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

monosomy 21

phenylketonuria

wolf-hirschhorn syndrome

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