title: [Down Syndrome--a clinical, cytogenetic and epidemiologic analysis of 165 patients].
abstract: A clinical follow up of 165 Down Syndrome (DS) patients in an outpatient clinic programme at the Centro de Genética Médica (IFF - FIOCRUZ) was undertaken retrospectively. Clinical and laboratorial investigations were performed, such as cytogenetics and hematological analysis, thyroid hormones survey, abdominal ultrasound and cervical column X Rays. The clinical diagnosis of Down Syndrome was mostly performed during the first year of life, and 70% of all patients were under 4 years of age, being predominantly males. Trisomy 21 derived from non disjunction was found in 85% of the patients. The most common congenital malformation was cardiopathy (37.5%) and among all the clinical complications, repeated pneumonia could be evidenced in 30% of the patients, mainly during the first year of life. Leukopenia was observed in 14% of the patients and abdominal ultrasound scans allowed the early detection of biliary stones in 4.3% of the patients examined, a significative finding in the paediatric population. A prospective clinical programme aiming to anticipate the detection of clinical complications on at risk DS populations will fulfill its objectives and may act as a reducing factor in the infantile mortality rate.
authors.affiliation: Centro de Genética, Instituto Fernandes Figueira, Fundação Oswaldo Cruz, Ministério da Saúde, Rio de Janeiro, RJ, Brazil.
authors.forename: R
authors.initials: R
authors.lastname: Boy
authors.forename: J G
authors.initials: JG
authors.lastname: Neto
authors.forename: F R
authors.initials: FR
authors.lastname: Vargas
authors.forename: C
authors.initials: C
authors.lastname: Fontana
authors.forename: J C
authors.initials: JC
authors.lastname: Almeida
authors.forename: J
authors.initials: J
authors.lastname: Llerena