Mosaicism in Fragile X syndrome: A family case series

Fragile X syndrome (FXS) has a classic phenotype, however its expression can be variable among full mutation males. This is secondary to variable methylation mosaicisms and the number of CGG triplet repeats in the non-coding region of the Fragile X Mental Retardation 1 (FMR1) gene, producing a varia...

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Veröffentlicht in:	Journal of intellectual disabilities 2022-09, Vol.26 (3), p.800-807
Hauptverfasser:	Saldarriaga, Wilmar, González-Teshima, Laura Yuriko, Forero-Forero, Jose Vicente, Tang, Hiu-Tung, Tassone, Flora
Format:	Artikel
Sprache:	eng
Schlagworte:	Autism Deoxyribonucleic acid Diagnostic tests DNA Foreign Countries Fragile X syndrome Genetic Disorders Genotype & phenotype Heredity Intellectual disabilities Intellectual Disability Males Medical diagnosis Mutation Symptoms (Individual Disorders) Women
Online-Zugang:	Volltext
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