Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: Further evidence of the existence of a limb defect gene in 6q21
- Universita di Palermo (Italy); and others
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 nonrandomly 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. 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. 8 refs., 3 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 91127
- Journal Information:
- American Journal of Medical Genetics, Vol. 55, Issue 3; Other Information: PBD: 30 Jan 1995
- Country of Publication:
- United States
- Language:
- English
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