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Background  Deletions and duplications of the  PAFAH1B1  and  YWHAE  genes in 17p13.3 are associated with different clinical phenotypes. In particular, deletion of  PAFAH1B1  causes isolated lissencephaly while deletions involving both  PAFAH1B1  and  YWHAE  cause Miller-Dieker syndrome. Isolated duplications of  PAFAH1B1  have been associated with mild developmental delay and hypotonia, while isolated duplications of  YWHAE  have been associated with autism. In particular, different dysmorphic features associated with  PAFAH1B1  or  YWHAE  duplication have suggested the need to classify the patient clinical features in two groups according to which gene is involved in the chromosomal duplication.    Methods  We analyze the proband and his family by classical cytogenetic and array-CGH analyses. The putative rearrangement was confirmed by fluorescence in situ hybridization.    Results  We have identified a family segregating a 17p13.3 duplication extending 329.5 kilobases by FISH and array-CGH involving the  YWHAE  gene, but not  PAFAH1B1,  affected by a mild dysmorphic phenotype with associated autism and mental retardation. We propose that  BHLHA9 ,  YWHAE , and  CRK  genes contribute to the phenotype of our patient. The small chromosomal duplication was inherited from his mother who was affected by a bipolar and borderline disorder and was alcohol addicted.    Conclusions  We report an additional familial case of small 17p13.3 chromosomal duplication including only  BHLHA9 ,  YWHAE,  and  CRK  genes. Our observation and further cases with similar microduplications are expected to be diagnosed, and will help better characterise the clinical spectrum of phenotypes associated with 17p13.3 microduplications.

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems