Resumo

VAGLIO, Alicia; MECHOSO, Búrix; QUADRELLI, Andrea  e  QUADRELLI, Roberto. Síndrome de trisomía 9p: características clínico-evolutivas y citogenéticas. Seguimiento de doce años. Arch. Pediatr. Urug. [online]. 2007, vol.78, n.2, pp.151-156. ISSN 1688-1249.

Summary Trisomy 9p is a chromosomal anomaly defined by partial or complete duplication of the short arm of one of the members of the 9 pair chromosome. Clinical findings include growth and mental retardation, characteristic craniofacial malformations and hand-foot anomalies. We report a 12 year follow-up of a female patient with trisomy 9p with an unbalanced karyotype defined as: 46,XX,t(9;21)(q10;q10),+i(9)(p10). The observed phenotypic findings illustrate the deficiencies associated with a complete duplication of the short arm of chromosome 9 and can aid in the genetic counseling of this particular chromosomal anomaly.

Palavras-chave : TRISOMY; CHROMOSOMES, HUMAN, PAIR 9; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )