| Autor: |
Galjaard, Robert-Jan H., Linde, Herma C. van der, Eussen, Bert H. J., Vries, Bert B. A. de, Wouters, Cokkie H., Oostra, Ben A., Graaff, Esther de, Heutink, Peter |
| Zdroj: |
American Journal of Medical Genetics. Part A; 30 August 2003, Vol. 121 Issue: 2 p168-173, 6p |
| Abstrakt: |
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. © 2003 Wiley-Liss, Inc. |
| Databáze: |
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