Complete trisomy 5p owing to de novo translocation t(5;22)(q11;p11) with isochromosome 5p associated with a familial pericentric inversion of chromosome 2, inv 2(p21q11).
A boy with a de novo translocation (5;22) and isochromosome 5p associated with a pericentric inversion of chromosome 2 (p21q11) is described. The pericentric inversion was also present in the mother. The main clinical features of the 'complete trisomy 5p' syndrome were present in the proband.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3; D002904:Chromosomes, Human, 21-22 and Y; D002905:Chromosomes, Human, 4-5; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014314:Trisomy