Duplication of 10q24 locus: broadening the clinical and radiological spectrum

  title={Duplication of 10q24 locus: broadening the clinical and radiological spectrum},
  author={M. Holder‐Espinasse and A. Jamsheer and F. Escande and J. Andrieux and F. Petit and A. Sowińska-Seidler and M. Socha and A. Jakubiuk-Tomaszuk and M. G{\'e}rard and M. Mathieu-Dramard and V. Cormier-Daire and A. Verloes and A. Toutain and G. Plessis and P. Jonveaux and C. Baumann and A. David and C. Farra and E. Colin and S. Jacquemont and A. Rossi and S. Mansour and N. Ghali and A. Moncla and N. Lahiri and J. Hurst and E. Pollina and C. Patch and J. Ahn and Anne-Sylvie Valat and A. M{\'e}zel and Philippe Bourgeot and David Zhang and S. Manouvrier-Hanu},
  journal={European Journal of Human Genetics},
Split-hand–split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500–25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malformations, or syndromic. The mode of inheritance is mostly autosomal dominant with incomplete penetrance, but can be X-linked or autosomal recessive. Seven loci are currently known: SHFM1 at 7q21.2q22.1 (DLX5 gene), SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27 (TP63 gene… Expand
1 Citations


Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation
  • 24
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non‐syndromic split‐hand/foot malformation
  • 24
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.
  • 96
  • PDF
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
  • 64
  • PDF
A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split‐hand/split‐foot malformation
  • 12
Pathogenesis of split-hand/split-foot malformation.
  • 177
  • PDF