6533b827fe1ef96bd12865f3
RESEARCH PRODUCT
Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: Further evidence for the existence of a limb defect gene in 6q21
L. GiuffreMaria Grazia PomponiRosa Maria AvarelloFiorella GurrieriMaurizio GenuardiM. CammarataGiovanni Nerisubject
MaleEctrodactylyEctromeliaUlnaChromosomal translocationGene mutationBiologySettore MED/03 - GENETICA MEDICATranslocation GeneticmedicineHumansLimb developmentGenetics (clinical)Chromosome 7 (human)Genetic heterogeneityInfant NewbornChromosomeAnatomymedicine.diseaseChromosome BandingChromosome BandSPLITKaryotypingChromosomes Human Pair 6Hand Deformities CongenitalChromosomes Human Pair 7Gene Deletiondescription
Ectrodactyly is a developmental defect of the distal limbs characterized by marked clinical variability and genetic heterogeneity, also reflected in the observation of different chromosome abnormalities non randomly associated with longitudinal postaxial limb deficiencies. The one most frequently found in patients with split hand-split foot (SHSF) involves chromosome band 7q22. Recently, structural anomalies of chromosome 6q21 have been reported in 2 unrelated patients with SHSF, suggesting that this region may also contain genes responsible for limb development [Braverman et al., 1993. Am J Hum Genet, suppl 53: 410; Viljoen and Smart, 1993. Clin Dysmorph 2: 274-277]. We report on a third patient who had a de novo, apparently balanced t(6;7)(q21;q31.2) translocation and bilateral ulnar aplasia with postaxial oligodactyly. In spite of the different phenotypic effects observed in these 3 patients, we consider our case as further evidence that genes in 6q21 may play a role in distal limb development.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1995-01-30 | American Journal of Medical Genetics |