Resumo

HERRERA MARTINEZ, Manuela et al. Síndrome 18 q -heredado. Rev Cubana Pediatr [online]. 1997, vol.69, n.2, pp. 95-101. ISSN 1561-3119.

It is presented the finding of an 18q-monosomy inherited by maternal translocation (3q, 18q) in a 4-year-old boy with the typical clinical characteristics, that is, mental retardation and facial dysmorphia pattern. The phenotype-karyotype correlation and the pedigree were made. The patient's findings are compared with others reported in the medical literature, and the genetical interest of the clinical and cytogenetic study of the parents is emphasized.

Palavras-chave : CHROMOSOME DELECTION; CHROMOSOME ABNORMALITIES [genetics]; CHROMOSOMES HUMAN, PAIR 18 [genetics]; TRANSLOCATION (GENETICS) [genetics]; KARYOTYPING; PHENOTYPE; PEDIGREE.