Abstract

Young boys with Fragile X Syndrome were characterized on the basis of a range of physical characteristics. Results were compared with a group of developmentally delayed boys of similar age who were known to test negative for Fragile X. The results of this study underscored the difficulty of identifying Fragile X Syndrome on the basis of physical characteristics: although it confirmed a number of reported profiles, it also underscored the considerable overlap in the two populations. Findings of this study differed from certain other reports in the lack of significantly greater incidence of ear infections. A major result of these investigations was the identification of significantly enlarged testicular volume in young boys with Fragile X syndrome, and its characterization and relationship with age. Lachiewicz AM, Dawson DV, Spiridigliozzi GA. Physical characteristics of young boys with Fragile X syndrome - Exploring the difficulty of making a clinical diagnosis in young males. Future work will focus on behavioral aspects. ?

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
Biotechnology Resource Grants (P41)
Project #
5P41RR003655-14
Application #
6206110
Study Section
Project Start
1999-09-01
Project End
2000-08-31
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
14
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
Case Western Reserve University
Department
Type
DUNS #
077758407
City
Cleveland
State
OH
Country
United States
Zip Code
44106

  Publications

Elston, Robert C; Satagopan, Jaya; Sun, Shuying (2017) Statistical Genetic Terminology. Methods Mol Biol 1666:1-9
Thota, Prashanthi N; Zackria, Shamiq; Sanaka, Madhusudhan R et al. (2017) Racial Disparity in the Sex Distribution, the Prevalence, and the Incidence of Dysplasia in Barrett's Esophagus. J Clin Gastroenterol 51:402-406
Liang, Jingjing; Cade, Brian E; Wang, Heming et al. (2016) Comparison of Heritability Estimation and Linkage Analysis for Multiple Traits Using Principal Component Analyses. Genet Epidemiol 40:222-32
Wang, Chuchu; Wu, Manman; Qian, Jin et al. (2016) Identification of rare variants in TNNI3 with atrial fibrillation in a Chinese GeneID population. Mol Genet Genomics 291:79-92
Lemas, Dominick J; Klimentidis, Yann C; Aslibekyan, Stella et al. (2016) Polymorphisms in stearoyl coa desaturase and sterol regulatory element binding protein interact with N-3 polyunsaturated fatty acid intake to modify associations with anthropometric variables and metabolic phenotypes in Yup'ik people. Mol Nutr Food Res 60:2642-2653
Day, Kenneth; Waite, Lindsay L; Alonso, Arnald et al. (2016) Heritable DNA Methylation in CD4+ Cells among Complex Families Displays Genetic and Non-Genetic Effects. PLoS One 11:e0165488
Justice, Cristina M; Bishop, Kevin; Carrington, Blake et al. (2016) Evaluation of IRX Genes and Conserved Noncoding Elements in a Region on 5p13.3 Linked to Families with Familial Idiopathic Scoliosis and Kyphosis. G3 (Bethesda) 6:1707-12
Petrovic, Dusan; Pivin, Edward; Ponte, Belen et al. (2016) Sociodemographic, behavioral and genetic determinants of allostatic load in a Swiss population-based study. Psychoneuroendocrinology 67:76-85
Castiblanco, John; Sarmiento-Monroy, Juan Camilo; Mantilla, Ruben Dario et al. (2015) Familial Aggregation and Segregation Analysis in Families Presenting Autoimmunity, Polyautoimmunity, and Multiple Autoimmune Syndrome. J Immunol Res 2015:572353
Shetty, Priya B; Tang, Hua; Feng, Tao et al. (2015) Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families. Circ Cardiovasc Genet 8:106-13

Showing the most recent 10 out of 922 publications