Clinical and cytogenetic profile of down syndrome at King Hussein Medical Centre

Abstract EN

-Objective : to describe the cytogenetic pattern, clinical features and other systemic anomalies of patients with Down syndrome at King Hussein Medical Centre.

Methods : 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 ; M : F ratio 1.6 : 1).

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 Results : 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.

Conclusion : 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.