The constitutional fragility of chromosome 12 in a case of 46,XX,var(12)(gh',RHG,CAG,CBG)

E Donti; G Venti; V Bocchini; G Rosi; R Armellini; N Trabalza

doi:10.1007/BF00273274

The constitutional fragility of chromosome 12 in a case of 46,XX,var(12)(gh',RHG,CAG,CBG)

Hum Genet. 1979 Apr 17;48(1):53-9. doi: 10.1007/BF00273274.

Authors

E Donti, G Venti, V Bocchini, G Rosi, R Armellini, N Trabalza

PMID: 457134
DOI: 10.1007/BF00273274

Abstract

The constitutional fragility of chromosome no. 12 in a female infant with unspecific clinical signs is described. RHG, GAG, and CBG methods were used to localize the fragile point. The breaks seem to be in 12q1.3, and always within an R band. A possible correlation between the phenotypic modifications and the chromosome variant is discussed.

Publication types

Case Reports

MeSH terms

Chromosome Aberrations*
Chromosome Banding
Chromosomes, Human, 21-22 and Y
Chromosomes, Human, 6-12 and X*
Female
Genetic Variation
Growth Disorders / genetics
Humans
Infant
Phenotype