[Holt-Oram syndrome with chromosomopathy (author's transl)].
A patient whose cardiac and skeletal malformations are compatible with Holt-Oram syndrome is presented. The interest lays in the fact that cytogenetic shows and excess of chromosomic material in the long arm of the sixth chromosome. Authors consider this to be a "de novo" finding as the study practiced on the parents has been normal. This chromosomic anomaly has not been, to their knowledge, reported in the literature. All known cases have a normal karyotype.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D006228:Hand Deformities, Congenital; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008663:Metacarpus / Q000002:abnormalities; D013577:Syndrome
Síndrome de Holt-Oram con cromosomopatía.