RESUMEN
Cases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q and proximal 13q resulting from a familial translocation. This case supports the causal association of duplication 11q with neural tube defects.
Asunto(s)
Cromosomas Humanos Par 11 , Cromosomas Humanos Par 13 , Enfermedades Fetales/genética , Familia de Multigenes , Translocación Genética , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/embriología , Anomalías Múltiples/genética , Femenino , Enfermedades Fetales/diagnóstico por imagen , Humanos , Cariotipificación , Masculino , Defectos del Tubo Neural/diagnóstico por imagen , Defectos del Tubo Neural/embriología , Defectos del Tubo Neural/genética , Fenotipo , Embarazo , Ultrasonografía PrenatalRESUMEN
A patient with a de novo duplication of 7pter-->7p12 and deletion of distal 10p resulting from an unbalanced translocation is described. The patient's phenotype demonstrates features associated with other reported cases with similar imbalances which include hypertelorism, Dandy-Walker malformations, ventricular septal defect, bilateral cleft lip and palate, abnormal hand positions and clubbed feet, hypospadias, and imperforate anus.
Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos Par 10 , Cromosomas Humanos Par 7 , Familia de Multigenes , Translocación Genética , Síndrome de Dandy-Walker , Humanos , Recién Nacido , Cariotipificación , Masculino , FenotipoRESUMEN
This paper reports the prenatal diagnosis and autopsy findings of a case of true isochromosome 18q [46,XY,i(18q)] with severe cephalic malformations. Comparison is made with other cases of i(18q).