Clinical spectrum and cytogenetic analysis of Down syndrome patients attending a referral clinic in Jordan

Abstract

The spectrum of medical conditions and the cytogenetic profile in all children with Down syndrome attending a referral clinic in Amman, Jordan over a 1-year period was described. A total of 33 patients (18 females, 15 males) attended, aged from day 1 to 14 years. Median maternal age at the time of delivery was 31.5 years. Eleven (33%) children had a mild to moderate conductive hearing loss, 5 (15%) had sensorineural hearing loss.9 (27%) had refractive error and 3 (9%) showed Brushfield spots. Primary hypothyroidism was documented in 10 (30%) children. Congenital cardiac defects were found in 22 (67%) children; the most common was atrial or ventral septal defect. Cytogenetic testing results revealed that 28 (85%) had trisomy 21 (3 had translocation and 2 showed mosaic pattern). The clinical profile of Down syndrome patients at our centre varies from reports from other centres.