On two patients with and without the classical Wolf-Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome |
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| Authors: | P. Petit J. Schmit H. Van den Berghe J. P. Fryns |
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| Affiliation: | Centre for Human Genetics, University of Leuven;Paediatrician, St Michel-Europe Hospital, Brussels, Belgium |
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| Abstract: | We report here on phenotype-karyotype correlations in two patients with and without complete features of the WHS but sharing the lack of a specific cosmic probe (D4S96/D4Z1) from 4p16.3. These findings indicate that WHS is true a contiguous gene deletion syndrome in nature and expression. |
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| Keywords: | fluorescence in situ hybridization Wolf-Hirschhorn syndrome 4p deletion |
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