Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the XXXX gene, from a normal father to his two affected children.

@entity1032 @entity851 @entity245 @entity4242 @entity32167 @entity40264 @entity2526 @entity36147 @entity4238 @entity1736 @entity43851
BACKGROUND: terminal deletions of the distal portion of the short arm of chromosome 3 cause a rare @entity2526 characterized by @entity851 , @entity245 , @entity1032 , @entity4238 , @entity4242 and @entity1736 . The phenotype of individuals with deletions varies from normal to severe. It was suggested that a 1,5 Mb minimal terminal deletion including the two genes @entity32167 and @entity40264 is sufficient to cause the syndrome. In addition the @entity43851 gene, mapping at 3p26.3 distally to @entity32167 and @entity40264 , was proposed as candidate gene for a non specific @entity1032 because of its high level of expression in the brain. METHODS AND RESULTS: we describe two affected siblings in which array-CGH analysis disclosed an identical discontinuous terminal 3p26.3 deletion spanning less than 1 Mb. The deletion was transmitted from their normal father and included only the @entity43851 gene. The two brothers present @entity4242 , light @entity1032 , learning and language difficulties but not the typical phenotype manifestations described in @entity36147 . CONCLUSION: a terminal 3p26.3 deletion including only the @entity43851 gene is a very rare finding previously reported only in one family. The phenotype of the affected individuals in the two families is very similar and the deletion has been inherited from an apparently normal parent. As already described for others recurrent syndromes with variable phenotype, these findings are challenging in genetic counselling because of an evident variable penetrance.
