Molecular screening for fragile X syndrome in children with unexplained intellectual disability and/or autistic behaviour

Milena Stoyanova; Mari Hachmeriyan; Mariya Levkova; Stoyan Bichev; Miglena Georgieva; Vilhelm Mladenov; Lyudmila Angelova

doi:10.3897/folmed.64.e60518

Molecular screening for fragile X syndrome in children with unexplained intellectual disability and/or autistic behaviour

Folia Med (Plovdiv). 2022 Feb 28;64(1):27-32. doi: 10.3897/folmed.64.e60518.

Authors

Milena Stoyanova¹, Mari Hachmeriyan¹, Mariya Levkova¹, Stoyan Bichev², Miglena Georgieva¹, Vilhelm Mladenov¹, Lyudmila Angelova¹

Affiliations

¹ Medical University of Varna, Varna, Bulgaria.
² Maichin Dom Sofia, Sofia, Bulgaria.

PMID: 35851904
DOI: 10.3897/folmed.64.e60518

Abstract

Fragile X syndrome (FXS, OMIM #300624) is the most common inherited form of intellectual disability and the leading monogenic cause of autism.

Keywords: developmental delay FMR1 screening genetic counseling.

This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

MeSH terms

Autistic Disorder* / diagnosis
Autistic Disorder* / genetics
Child
Fragile X Mental Retardation Protein / genetics
Fragile X Syndrome* / complications
Fragile X Syndrome* / diagnosis
Fragile X Syndrome* / genetics
Humans
Intellectual Disability* / diagnosis
Intellectual Disability* / genetics

Substances

Fragile X Mental Retardation Protein