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Pediatría (Asunción)

versão On-line ISSN 1683-9803

Resumo

ALVARENGA, Eliana  e  TORRES, Elodia. Wolf-Hirschhorn syndrome due to translocation: report of a case. Pediatr. (Asunción) [online]. 2021, vol.48, n.2, pp.142-146. ISSN 1683-9803.  https://doi.org/10.31698/ped.48022021009.

Wolf-Hirschhorn syndrome (WHS) is a genetic disease caused by the loss of a distal portion in the short arm of chromosome 4. It is characterized by the fact that patients present a typical craniofacial feature. The case of a 7-month-old girl with various malformations and nasogastric feeding is presented, on whom fluorescent in situ hybridization (FISH) and karyotype techniques were performed. By FISH, the microdeletion of the short arm of chromosome 4, region p16.3, was detected and in the karyotype an unbalanced translocation was observed between the short arm of chromosome 4 and an extra piece of unknown origin. In order to determine the origin of the translocation, the chromosomal study was performed on the parents, with normal results. This case reveals the need to perform FISH in patients with multiple malformations and suspected carriers of chromosomal microdeletion.

Palavras-chave : Chromosome; human genetics.

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