Split hand/foot @entity600 (SHFM) is characterized by underdeveloped or absent central digital rays, clefts of hands and feet, and variable syndactyly of the remaining digits. SHFM is a heterogeneous condition caused by abnormalities at one of multiple loci, including @entity8448 ( @entity8448 at 7q21-q22), @entity13118 (Xq26), @entity13116 ( @entity30201 / @entity30201 at 10q24), @entity4206 ( @entity4206 at 3q27), and @entity13117 ( @entity34821 and @entity36693 at 2q31). @entity13116 is unique in that it is caused by submicroscopic tandem chromosome duplications of @entity30201 / @entity30201 . In order to show that array-based comparative genomic hybridization should be considered an essential aspect of the genetic analysis of @entity1 with SHFM, we report on a family with two brothers who have @entity34263 . Interestingly, both also have @entity735 . Their sister and both parents are healthy. DNA of all five family members was analyzed using oligonucleotide-based DNA microarray and quantitative PCR. The two affected brothers were found to have a small duplication of approximately 539 kb at 10q24.32. The @entity1 ' sister and father do not have the microduplication, but qPCR showed that mother's DNA carries the duplication in 20% of blood lymphocytes. In this family, two @entity1 were affected with @entity34263 having a duplication over the @entity13116 locus. The mother, who shows no clinical features of ectrodacytyly, is a mosaic for the same duplication. Therefore, we demonstrate that somatic/gonadal mosaicism is a mechanism that gives rise to SHFM. We also suggest that @entity735 may be part of the clinical description of @entity13116 .

Somatic/gonadal mosaicism in a syndromic form of @entity34263 , including XXXX , documented through array-based comparative genomic hybridization.

@entity1 :: ('9606', 'Species') :: ['children', 'patients'] @entity8448 :: ('7979', 'Gene') :: ['SHFM1'] @entity30201 :: ('6468', 'Gene') :: ['FBXW4', 'DACTYLIN'] @entity13118 :: ('6463', 'Gene') :: ['SHFM2'] @entity34821 :: ('1745', 'Gene') :: ['DLX1'] @entity34263 :: ('MESH:C574275', 'Disease') :: ['ectrodactyly'] @entity4206 :: ('8626', 'Gene') :: ['SHFM4', 'TP63'] @entity600 :: ('MESH:D000014', 'Disease') :: ['malformation'] @entity13116 :: ('100049542', 'Gene') :: ['SHFM3'] @entity13117 :: ('171157', 'Gene') :: ['SHFM5'] @entity36693 :: ('1746', 'Gene') :: ['DLX 2'] @entity735 :: ('MESH:D005124', 'Disease') :: ['ocular abnormalities']
@entity735 :: (MESH:D005124,Disease) :: ['eye abnormalities']
