We describe a patient with an unbalanced translocation, leading to duplication 9p23→pter and deletion 5p15.32→pter, showing clinical features of both 5p- and dup9p syndromes. Our report suggests that a specific phenotype due to 5p15.33 deletion exists and that the critical region for dup9p syndrome should be extended to 9p23.
Combination of monosomy 5p15.3 and trisomy 9p23: Clinical and cytogenetic definition of both conditions
Melis D.;Della Casa R.
2007-01-01
Abstract
We describe a patient with an unbalanced translocation, leading to duplication 9p23→pter and deletion 5p15.32→pter, showing clinical features of both 5p- and dup9p syndromes. Our report suggests that a specific phenotype due to 5p15.33 deletion exists and that the critical region for dup9p syndrome should be extended to 9p23.File in questo prodotto:
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