Resumo

TORRES, Elodia; HERREROS, Maria Beatriz de  e  ASCURRA, Marta. 18p Monosomy with characteristics of Kabuki Syndrome. Pediatr. (Asunción) [online]. 2005, vol.32, n.1, pp.40-43. ISSN 1683-9803.

A 7 year old girl presented with facial dysmorphysms and language disorders, as well as other clinical characteristics consistent with Kabuki Syndrome. Chromosomal studies with conventional staining techniques and G and C band identification showed a deletion in the short arm of one chromosome 18. The girl’s karyotype was 46, XX, del 18(p11.1‡ pter), confirming the 18p- syndrome. The parents’ karyotypes were normal. We highlight the importance of chromosomal studies in patients with clinical characteristics consistent with known genetic syndromes. Furthermore, the patients phenotype is compared with those reported for Kabuki Syndrome.

Palavras-chave : 18p deletion; monosomy; Kabuki Syndrome.