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.
Original language | English |
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Pages (from-to) | 168-73 |
Number of pages | 6 |
Journal | American Journal of Medical Genetics, Part A |
Volume | 121A |
Issue number | 2 |
DOIs | |
Publication status | Published - 30 Aug 2003 |
Externally published | Yes |
Bibliographical note
Copyright 2003 Wiley-Liss, Inc.Keywords
- Abnormalities, Multiple/genetics
- Adolescent
- Chromosome Disorders/genetics
- Chromosomes, Human, Pair 4
- Chromosomes, Human, Pair 7
- Fathers
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability/genetics
- Karyotyping
- Male
- Mosaicism
- Phenotype
- Polydactyly/genetics
- Translocation, Genetic/genetics