E trisomy phenotype associated with small metacentric chromosome and a familial Y-22 translocation.
As a result of this case report, several entities are postulated due to an extra metacentric D or E chromosome: 1) infants presenting with a phenotype similar to the E 18 trisomy; however, the karyotype can be interpreted as either a deleted E or D chromosome; 2) another group of children all presenting with mental retardation, facial asymmetry, scoliosis and cerebral palsy, postulated due to a partial trisomy of E 16 or E 17; 3) individuals with a normal phenotype, but chromosomally presented with an additional satellited metacentric chromosome consistent with centric fusion of a D or G chromosome and 4) children presenting with an inconsistent phenotype and chromosomally presenting with an extra chromosome manifesting satellites or satellite association; the same chromosome abnormality often is found in unaffected parents and/or sibs.
D002869:Chromosome Aberrations; D002902:Chromosomes, Human, 16-18; D002904:Chromosomes, Human, 21-22 and Y; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012730:Sex Chromosomes / Q000648:ultrastructure*; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy