|Title:||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|
Heart Defects, Congenital
|Appears in Collections:||EMRO Journal Articles (EMHJ)|
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