Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSPIZZO, GiselleFREITAS, Erika L.KREPISCHI, Ana Cristina V.PEARSON, Peter L.VASQUES, Luciana R.PASSOS-BUENO, Maria Rita S.BERTOLA, Debora R.ROSENBERG, Carla2014-01-282014-01-282013EUROPEAN JOURNAL OF MEDICAL GENETICS, v.56, n.4, p.222-225, 20131769-7212https://observatorio.fm.usp.br/handle/OPI/4468We report a 10-year-old boy with syndromic cleft lip and palate (CLP) and neuro-psychomotor developmental delay. Oligoarray comparative genomic hybridization (aCGH) detected an approximately 300 kb interstitial microduplication at 5p15.33 encompassing 5 protein-coding genes, including TERT and CLPTM1L, and two microRNA genes. Our findings suggest that the duplicated segment predisposes for cleft lip with or without cleft palate (CL/P), or any of the other phenotypic features presented by the patient. A gene coding a similar protein (CLPMT1) has been implicated in CLP etiology both through linkage studies and by a translocation disrupting the gene, indicating the possible involvement of CLPTM1L with CL/P. This is the first report of a possible connection between CLPTM1L and CLP.engrestrictedAccessMicroduplicationaCGHTERTCLPTM1LCleft lip and palatearticleCopyright ELSEVIER SCIENCE BV10.1016/j.ejmg.2013.01.002Genetics & Heredity