Table 1

Known genes and FISH signal distribution of cosmid signals located in the SHFM1 critical region of the mother

SHFM1 critical region Gene Cosmid probes Distance to DSS1 Distribution of signals
7q21.3der (7)chromosome 7der (3)
PDK4cos426/61d4++
DNCI1cos437/237d7++
SLC25A13 cos405/24g11400 kb++
cos274/64b4100 kb++
DSS1
cos256/191f10++
DLX6,DLX5 cos DLX++
7q22.1
  • PDK4 = pyruvate dehydrogenase kinase isoenzyme 4. DNCI1 = dynein cytoplasmic intermediate polypeptide 1. SLC25A13 = adult onset type II citrullinaemia (CTLN2). DSS1 = deleted in split hand/split foot 1 region.DLX5 and DLX6 = distal less homeobox gene 5 and 6. Additional information on the cosmid probes can be found at: http://www.genet.sickkids.on.ca/chromosome7/