Galjaard Robert-Jan H, van der Linde Herma C, Eussen Bert H J, de Vries Bert B A, Wouters Cokkie H, Oostra Ben A, de Graaff Esther, Heutink Peter
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Am J Med Genet A. 2003 Aug 30;121A(2):168-73. doi: 10.1002/ajmg.a.20165.
Postaxial polydactyly (PAP) is characterized by the presence of one or more extra ulnar or fibular digits or parts of it. PAP type B presents frequently as a skin tag on the hand(s). It is usually an isolated malformation, but in 6.6% it is associated with other congenital abnormalities, mostly well recognizable syndromes. We present a male with PAP-B only and his daughter with an extended phenotype including mental retardation and minor dysmorphisms. Both share a cytogenetically balanced t(4;7)(p15.2;q35), present in mosaicism in the father. We found microdeletions associated with the breakpoints. The chromosomal regions described here have not been previously associated with the PAP-B phenotype. We present the first case of an individual with isolated PAP-B and a submicroscopic chromosome abnormality.
