versão On-line ISSN 1683-9803
This report is on a girl of 25 years old with a distal duplication of the long arm of chromosome 3. Trisomy 3q is a rare disease caused by the duplication of the long arm of chromosome 3. The most important signs of the disease includes pre and post-natal growth delay, severe mental retard, microcephaly, synophrism, hypertrichosis, heart, kidney and other organs malformations among others and occasionally limbs anomaly. The chromosome study was carried out in peripheral blood with conventional staining techniques andGC and C band identification. The cariotype of the patient was 46, XX, dup 3 (q25 qter) while the cariotypes of the parents were normal. The clinical characteristics were also compatible with Beckwith-Wiedeman and Cornelia de Lange syndromes that were discarded by chromosome analysis. We highlight in this paper the importance of making an accurate chromosome study in the differential diagnosis of genetic origin syndromes for the certainty diagnosis and genetic counseling to parents.
Palavras-chave : 3q duplication; dup(3q) syndrome; chromosome 3.