Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism

Abstract

Potocki-Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS have been presented in the literature, its behavioral characterization is still ambiguous. We present a male child with a de novo dup(17)(p11.2p11.2) and he does not possess any autistic features, but is characterized by severe speech and language impairment. In the context of the analyses of this patient and other cases of PTLS, we argue that the central feature of the syndrome appears to be related to diminished speech and language capacity, rather than the specific social deficits central to autism.

Figure

Figure shows duplication at 17p11.2 at positions 16,497,803 and 20,292,768 bp of build NCBI36/hg18. The increase in the log R ratio values (log R ratio zero represents diploid copy number and increased log2 ratios represents duplicated regions) and the split in the B allele frequencies (BAF; allelic composition) plotted for each SNP.