Clinical and cytogenetic profile of down syndrome at King Hussein medical centre

ABSTRACT

To describe the cytogenetic pattern, clinical features and other systemic anomalies of patients with Down syndrome at King Hussein Medical Centre. Retrospective analysis of medical case files of Down syndrome patients attending the Genetics Clinic at King Hussein Medical Center was performed. A total of 87 patients were studied during the period between June 2007 to December 2009 [54 males and 33 females; MF ratio 1.61]. The following information was recorded age at presentation; gender; maternal age; craniofacial and other physical features; presence and type of congenital heart disease, gastrointestinal abnormalities, hearing assessment, ophthalmic evaluation, complete blood count, kidney and liver function tests, thyroid function tests, and results of cytogenetic evaluation Out of the 87 patients studied; ophthalmologic abnormalities were detected in 20 out of 67 patients whose eye examination was available. Congenital heart disease was found in 41 [48.8%] cases out of 84 patients who underwent Echocardiographic examination. Gastrointestinal anomalies were noted in 9 [11%] cases. Hypothyroidism was present in 17[22.7%] cases out of 75 patients. Results of chromosomal analysis were available in 80 patients and showed free trisomy [non-disjunction] in74 patients [92.5%], two [2.5%] had translocation, and three [3.8%] were mosaics and one patient [1.3%] had an additional chromosomal abnormality. Down syndrome is associated with a significant systemic abnormalities and is frequently seen among mothers younger than 25 years of age. Early diagnosis and proper screening should be undertaken among these patients