title: Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands. r.galjaard@erasmusmc.nl
authors.forename: Robert-Jan H
authors.initials: RJ
authors.lastname: Galjaard
authors.forename: Herma C
authors.initials: HC
authors.lastname: van der Linde
authors.forename: Bert H J
authors.initials: BH
authors.lastname: Eussen
authors.forename: Bert B A
authors.initials: BB
authors.lastname: de Vries
authors.forename: Cokkie H
authors.initials: CH
authors.lastname: Wouters
authors.forename: Ben A
authors.initials: BA
authors.lastname: Oostra
authors.forename: Esther
authors.initials: E
authors.lastname: de Graaff
authors.forename: Peter
authors.initials: P
authors.lastname: Heutink
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D025063:Chromosome Disorders / Q000235:genetics; D002894:Chromosomes, Human, Pair 4; D002897:Chromosomes, Human, Pair 7; D005220:Fathers; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D017689:Polydactyly / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic / Q000235:genetics*