caa a22 4500 445860650 CHVBK 20180317145441.0 cr unu---uuuuu 170323e20111201xx s 000 0 eng 10.1007/s00439-011-1020-y doi (NATIONALLICENCE)springer-10.1007/s00439-011-1020-y The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions [Elektronische Daten] [Minire Hasi, Bridgette Soileau, Courtney Sebold, Annice Hill, Daniel Hale, Louise O'Donnell, Jannine Cody] The goal of this study is to define the effects of TCF4 hemizygosity in the context of a larger segmental deletion of chromosome 18q. Our cohort included 37 individuals with deletions of 18q. Twenty-seven had deletions including TCF4 (TCF4 +/−); nine had deletions that did not include TCF4 (TCF4 +/+); and one individual had a microdeletion that included only the TCF4 gene. We compared phenotypic data from the participants' medical records, survey responses, and in-person evaluations. Features unique to the TCF4 +/− individuals included abnormal corpus callosum, short neck, small penis, accessory and wide-spaced nipples, broad or clubbed fingers, and sacral dimple. The developmental data revealed that TCF4 +/+ individuals were only moderately developmentally delayed while TCF4 +/− individuals failed to reach developmental milestones beyond those typically acquired by 12months of age. TCF4 hemizygosity also conferred an increased risk of early death principally due to aspiration-related complications. Hemizygosity for TCF4 confers a significant impact primarily with regard to cognitive and motor development, resulting in a very different prognosis for individuals hemizygous for TCF4 when compared to individuals hemizygous for other regions of distal 18q. Springer-Verlag, 2011 Hasi Minire Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, 78229, San Antonio, TX, USA aut Soileau Bridgette Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, 78229, San Antonio, TX, USA aut Sebold Courtney Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, 78229, San Antonio, TX, USA aut Hill Annice Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, 78229, San Antonio, TX, USA aut Hale Daniel Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, 78229, San Antonio, TX, USA aut O'Donnell Louise Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, 78229, San Antonio, TX, USA aut Cody Jannine Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, 78229, San Antonio, TX, USA aut Human Genetics Springer-Verlag 130/6(2011-12-01), 777-787 0340-6717 130:6<777 2011 130 439 https://doi.org/10.1007/s00439-011-1020-y text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-011-1020-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hasi Minire Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, 78229, San Antonio, TX, USA aut NATIONALLICENCE 700 1- Soileau Bridgette Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, 78229, San Antonio, TX, USA aut NATIONALLICENCE 700 1- Sebold Courtney Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, 78229, San Antonio, TX, USA aut NATIONALLICENCE 700 1- Hill Annice Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, 78229, San Antonio, TX, USA aut NATIONALLICENCE 700 1- Hale Daniel Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, 78229, San Antonio, TX, USA aut NATIONALLICENCE 700 1- O'Donnell Louise Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, 78229, San Antonio, TX, USA aut NATIONALLICENCE 700 1- Cody Jannine Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, 78229, San Antonio, TX, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 130/6(2011-12-01), 777-787 0340-6717 130:6<777 2011 130 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer