A new case of "complete" trisomy 5p with isochromosome 5p associated with a de novo translocation t(5;8)(q11;p23).
A boy with a de novo translocation t(5;8)(q11;p23) and an isochromosome 5p is described. The main clinical features found in the complete trisomies 5p are reviewed and the mechanisms of the chromosomal rearrangements involving centromeric and telomeric regions are discussed.
Fujita
M
M
Laboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, France.
Flori
E
E
Lemaire
F
F
Casanova
R
R
Astruc
D
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D002503:Centromere / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002895:Chromosomes, Human, Pair 5; D002898:Chromosomes, Human, Pair 8; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D018404:Isochromosomes; D007621:Karyotyping; D008297:Male; D016615:Telomere / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy