ABSTRACT. In several patients, intellectual disability and/or congenital malformation may be attributed to chromosomal changes. In this study, we conducted an array-CGH test of 200 patients from the Northeast of Brazil with intellectual disability and/or congenital malformation. Blood samples were collected from the proband and from their parents when possible. DNA was extracted and investigated using the array-CGH test. Findings were evaluated for the pathogenicity in databases of benign and pathogenic changes (ISCA, UCSC, DGV, and DECIPHER). Forty-seven copy number variations (CNVs) were identified in 43/200 (21.5%) patients, including 25/98 (25.5%) in males and 22/102 (21.57%) in females. We considered 33 of these to be clinically significant, reaching a diagnosis rate of 16.5%. The sizes of the CNVs varied from 102 kb to 24 Mb in deletions and from 115 kb to 140 Mb in duplications. In 10/47 (21.3%) patients, the rearrangement involved a sex chromosome. Thirty-nine patients had one chromosomal aberration, while 2 concomitant abnormalities were detected in 4 patients. Ten of 47 CNVs (21.3%) were > 5Mb in size. Fifteen patients had CNVs related to known syndromes. This research highlights the contribution of submicroscopic chromosomal changes to the etiology of intellectual disability and/or congenital malformation, particularly the implication of chromosomal abnormalities detected using an array-CGH test, with a high rate of 16.5%. Thus, our results support the use of array-CGH replacing standard karyotype as the first-tier cytogenetic diagnostic test for patients with multiple congenital anomalies and/or intellectual disability.

ResumoObjetivo: Alertar o pediatra sobre a possibilidade do diagnós-tico de hemossiderose pulmonar idiopática na infância, nos casos de anemia associada à doença pulmonar crônica.Métodos: Este artigo descreve a hemossiderose pulmonar idiopática em criança de 6 anos de idade, documentada histopatologicamente e faz uma revisão sobre o tema.Resultados: Criança de 6 anos de idade com quadro prévio de anemia e doença pulmonar caracterizada por chiado no peito, pneumonia de repetição e baqueteamento digital, internou para investigação diagnóstica, ocasião na qual apresentou súbita deterioração respiratória associada à hemoptise, quando foi submetida à biópsia pulmonar cuja análise histopatológica foi compatível com Hemossiderose Pulmonar. Iniciada corticoterapia com boa resposta inicial, porém houve novo surto de hemorragia pulmonar após dois meses e meio de terapia, desta vez fatal.Conclusões: A hemossiderose pulmonar idiopática deve ser lembrada como possibilidade diagnóstica em crianças com anemia e quadro pulmonar crônico. Este caso ilustra bem essa possibilidade. AbstractObjective: To alert pediatricians about the possibillity of childhood Idiopathic Pulmonary Hemosiderosis, in cases of anemia associated with chronic lung disease.Methods: This article documents a case of Idiopathic Pulmonary Hemosiderosis in a 6 year-old child, with histopathological documentation, and reviews it against published literature.Results: A 6 year-old child with history of anemia and lung disease characterized by wheezing, recurrent pneumonia and digital clubbing was admitted to the hospital for investigation, where he suffered sudden respiratory failure and hemoptysis.He was submitted to a lung biopsy which showed a histopathological diagnosis compatible with pulmonary hemosiderosis. Therapy with high doses of corticosteroids was initiated with a good early response. After two and a half months of therapy he had a new bleeding episode, culminating in death.Conclusions: Idiopathic Pulmonary Hemosiderosis should be included as a possible diagnosis of children with anemia and chronic lung disease. This case is a good example.J. pediatr. (Rio J.). 2000; 76(2): 149-152: hemosiderosis, chronic lung disease.