CLINICAL REPORT Intellectual Disability and Overgrowth—A New Case of 19p13.13 Microdeletion Syndrome with Digital Abnormalities Rita Jorge, 1 * Carmen Silva, 1 Sofia  Agueda, 1 Sofia D oria, 2 and Miguel Le~ ao 2,3 1 Department of Paediatrics, S~ ao Jo~ ao Hospital Centre, Porto, Portugal 2 Department of Genetics, Faculty of Medicine, Porto, Portugal 3 Paediatric Neurology Unit, Department of Paediatrics, S~ ao Jo~ ao Hospital Centre, Porto, Portugal Manuscript Received: 17 January 2014; Manuscript Accepted: 29 June 2015 19p13.13 microdeletion has been consistently associated with intellectual disability, overgrowth, and macrocephaly. We re- port a 19p13.13 microdeletion, detected by array CGH, in a girl with moderate intellectual disability, overgrowth with macro- cephaly, prominent digit pads and deep digital creases, hypoto- nia, ataxia, and strabismus. This clinical report helps to delineate the role of some of the deleted genes, as well as the phenotype of recently described 19p13.13 microdeletion syndrome, including the description of novel digital abnormalities. Ó 2015 Wiley Periodicals, Inc. Key words: 19p13.13 microdeletion; overgrowth; intellectual disability; finger pads; NFIX INTRODUCTION Chromosome 19 is one of the most gene-rich chromosomes of the human genome (approximately 2000 genes within 59 Mb) but genomic rearrangements involving this chromosome constitute a rare finding. Nevertheless, there have been a few reports of copy number variations (CNV) in specific regions of chromosome 19 associated with recognizable phenotypes. In 2009, a 19p13.2-p13.13 deletion was first reported in a child with syndromic craniosynostosis [Lysy et al., 2009]. In the same year, a smaller deletion of p13.13 region was described in a patient with developmental delay, overgrowth, and infantile spasms [Auvin et al., 2009]. Furthermore five patients with 19p13.13 microdeletion/microduplications were described, with phenotypic findings that suggested the existence of a new syndrome [Dolan et al., 2010]. The four patients with 19p13.13 microdeletion described by Dolan et al. [2010] pre- ] presented with developmental delay or intellectual disability, overgrowth, macrocephaly, ophthalmologic, and gastrointesti- nal findings. Some of them also featured neurologic abnormal- ities, including seizures and hypotonia. Since then, there have been only two more reports with deletions involving this chromosome region [Bonaglia et al., 2010; Nimmakayalu et al., 2013]. A Sotos-like disorder characterized by neuro- cognitive disability, overgrowth, and facial dimorphisms has also been described in a family with a microduplication of 19p13.2 region [Lehman et al., 2012]. We report one additional case of a 19p13.13 microdeletion and discuss the role of some of the deleted genes. CLINICAL REPORT Our patient was a Caucasian 3 year old girl, referred to genetic consultation for psychomotor delay and overgrowth. During pregnancy, and secondary to an increased nuchal translucency, an amniocentesis was performed and the karyotype showed a normal female chromosomal complement. She was born at term and, at birth, weight and length were at the 50th centile and head circumference was at the 95th centile. Her parents were both healthy and non-consanguineous. She was admitted to the neonatal intensive care unit in the fourth day of life for hyper- natremic dehydration and metabolic acidosis, with good recovery. Conflict of interest: none. Ã Correspondence to: Rita M. Jorge, Department of Paediatrics, S~ ao Jo~ ao Hospital Centre, Alameda Prof. Hern^ ani Monteiro, 4200–319 Porto, Portugal E-mail: ritamilheiro@hotmail.com Article first published online in Wiley Online Library (wileyonlinelibrary.com): 4 September 2015 DOI 10.1002/ajmg.a.37280 How to Cite this Article: Jorge R, Silva C,  Agueda S, D oria S, Le~ ao M. 2015. Intellectual disability and overgrowth—A new case of 19p13.13 microdeletion syndrome with digital abnormalities. Am J Med Genet Part A 167A:2839–2843. Ó 2015 Wiley Periodicals, Inc. 2839