TY - CHAP M1 - Book, Section TI - Fragile X Mental Retardation A1 - Pyeritz, Reed E. A2 - Papadakis, Maxine A. A2 - McPhee, Stephen J. A2 - Rabow, Michael W. Y1 - 2020 N1 - T2 - Current Medical Diagnosis and Treatment 2020 AB - ESSENTIALS OF DIAGNOSISExpanded trinucleotide repeat (more than 200) in the FMR1 gene.Males: mental retardation and autism; large testes after puberty.Females: learning disabilities or mental retardation; premature ovarian failure.Late-onset tremor and ataxia in males and females with moderate trinucleotide repeat (55–200) expansion (premutation carriers). SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2022/05/20 UR - accessmedicine.mhmedical.com/content.aspx?aid=1166177795 ER -