engleski

22q11.2 deletion in a series of paediatric at risk patients

22q11.2 deletion syndrome is a common disorder typically consisting of dysmorphic facies, congenital heart defects (CHD), hypoparathyroidism, immunodefeiciency and palate abnormalities. The associated phenotypic manifestations are extensive, highly variable from patient to patient and age-dependent. Patients with mild clinical manifestations presenting with apparently isolated malformation or dysmorphic traits can be easily overlooked. To find out if the 22q11.2 deletion studies should become a part of a standardized diagnostic workup for patients presenting with isolated defects of with dysmorphic traits alone. We prospectively studied the frequency of 22q11.2 deletion in an unselected population of 171 patients aged 4 days to 18 years referred because of : 1. CHD (64) 2. cleft palate (58) 3. hypocalcemia (18) 4. dysmorphic features suggestive of del22q11.2 (31). Detailed clinical evaluation, high-resolution chromosome and FISH analysis were performed. Results: FISH analysis revealed 22q11.2 deletion in 9.4% (6/64) patients with CHD. In the subgroup of patients with conotruncal anomalies del22.q11.2 was present in 17.8% (5/28) patients. From 18 patients referred because of the hypocalcaemia, 6 had 22q11.2 deletion (33.3%). In the group of 31 patients with dysmorphic features, the diagnosis was confirmed in two patients (6.4%). Testing for the 22q11.2 microdeletion can be recommended in all patients with conotruncal heart defects and in patients with hypocalcaemia. It could be considered in patients presenting with at least 3 dysmorphic traits suggestive of 22q11.2 microdeletion syndrome. A routine screening for the 22q11 deletion patients with and isolated palatal defect may not be warranted.

22q11.2 deletion; FISH; molecular cytogenetics

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