Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms
M Fannemel, T Barøy, A Holmgren… - European journal of …, 2014 - Elsevier
Abstract 2p15p16. 1-deletion syndrome was first described in 2007 based on the clinical
presentation of two patients. The syndrome is characterized by intellectual disability, autism
spectrum disorders, microcephaly, dysmorphic facial features and a variety of congenital
organ defects. The precise genotype–phenotype correlation in 2p15-deletion syndrome is
not understood. However, greater insight can be obtained by thorough clinical investigation
of patients carrying deletions, especially those of small size. We report a 21-year-old male …
presentation of two patients. The syndrome is characterized by intellectual disability, autism
spectrum disorders, microcephaly, dysmorphic facial features and a variety of congenital
organ defects. The precise genotype–phenotype correlation in 2p15-deletion syndrome is
not understood. However, greater insight can be obtained by thorough clinical investigation
of patients carrying deletions, especially those of small size. We report a 21-year-old male …