[Clinical, epidemiological and cytogenetic studies on 221 patients with Down syndrome]. / Studii clinice, epidemiologice si citogenetice pe un lot de 221 pacienti cu sindrom Down.

UNLABELLED: Down syndrome, determined by 21 trisomy, represents a major cause of infantile morbidity and mortality. AIM: The analysis of dysmorphic features in Down syndrome, incidence of major congenital abnormalities, of some epidemiological parameters and cytogenetic specifics. MATERIAL AND METHOD: Methods used were clinical, epidemiological and cytogenetical. We analysed 221 patients, from Iasi county, with clinical supposition of Down syndrome, identified in the first year of life, between 1985 and 1999. RESULTS: The majority of patients (67%) have more than 5 from 10 characteristics dysmorphic signs of Down syndrome in neonatal period. Visceral congenital abnormalities--82 cases (37.1%) were isolate (cardiac or digestive) or multiple. The presence of one visceral abnormality determined the death of patient in 30 cases (46.15% of death). Medium incidence of Down syndrome in Iasi county was 1.306 per thousand (1/769 new-born), with median value 1.091per thousand and corrected value related to the maternal age 1.056 per thousand. Cytogenetic analysis was performed at 101 patients, in 95 cases (94.05%) clinical suspicion of Down syndrome was correct, patients presenting 21 trisomy (in the majority of cases a homogenous free trisomy). CONCLUSION: The data obtained by us are concordant with the majority of literature studies, that a test the correctness of clinical trial and validate our results.