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

Kawar, M.; Dahabreh, M.; Hawamdeh, A.

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.

JORDAN; ANALYSIS of variance; CYTOGENETICS; LONGITUDINAL method; MATERNAL age; DOWN syndrome; GENETICS

Eastern Mediterranean Health Journal, 2010, Vol 16, Issue 12, p1211

1020-3397

Academic Journal

10.26719/2010.16.12.1211