Tetrasomy 5p mosaicism due to an additional isochromosome 5p in a man with normal phenotype.
Venci
Anna
A
Cytogenetics and Medical Genetics Laboratory, Operative Unit of Clinical Investigations, IRCCS Humanitas Clinical Institute, Rozzano, Milan, Italy.
Bettio
Daniela
D
D000328:Adult; D002648:Child; D002871:Chromosome Banding; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D024182:Uniparental Disomy / Q000235:genetics