RESUMEN
The authors report a case of a partial trisomy for the long arm of chromosome 3. The associated morphotypic anomalies are compared with the 31 cases already reported, and allow to further outline a well recognizable morphotype which has similarities with the Brachmann Cornelia de Lange Syndrome. The chromosomal mechanisms which may result in this unbalanced caryotype dup 3 q are discussed, and among them the possible role of a paternal chromosome 9 pericentric inversion, most commonly termed as a normal variant.
Asunto(s)
Anomalías Múltiples/genética , Inversión Cromosómica , Cromosomas Humanos 1-3/ultraestructura , Cromosomas Humanos 6-12 y X/ultraestructura , Heterocigoto , Trisomía , Anomalías Múltiples/diagnóstico , Bandeo Cromosómico , Síndrome de Cornelia de Lange/diagnóstico , Síndrome de Cornelia de Lange/genética , Diagnóstico Diferencial , Femenino , Marcadores Genéticos , Humanos , Recién Nacido , FenotipoRESUMEN
The authors report a case of a primitive inflammatory arteriopathy involving the right axillary and left pulmonary arteries, or Takayasu's disease in a 16 years old adolescent. After recalling the criteria of definition and diagnosis of the disease, they stress the value of an early diagnosis during the first preocclusive phase of this exceptional disease, that may well begin at the paediatric age group.