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