Mi SciELO
Servicios Personalizados
Articulo
Indicadores
- Citado por SciELO
Links relacionados
- Similares en SciELO
Compartir
Revista Cubana de Pediatría
versión On-line ISSN 1561-3119
Resumen
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.
Palabras clave : CHROMOSOME DELECTION; CHROMOSOME ABNORMALITIES [genetics]; CHROMOSOMES HUMAN, PAIR 18 [genetics]; TRANSLOCATION (GENETICS) [genetics]; KARYOTYPING; PHENOTYPE; PEDIGREE.