Homozygosity for fragile site at 17p12 in a 28-year-old healthy man.
In a family two heterozygous children and a homozygous phenotypically normal father with a fragile site at 17p12 were discovered. This observation confirms the opinion that even homozygosity for this fragile site is phenotypically harmless.
D000328:Adult; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002902:Chromosomes, Human, 16-18; D006720:Homozygote; D006801:Humans; D007621:Karyotyping; D008297:Male; D008677:Metaphase; D010375:Pedigree