Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Do the data really support ordering fragile X testing as a first-tier test without clinical features?

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2017

Weinstein Veronique, Tanpaiboon Pranoot, Chapman Kimberly A, Ah Mew Nicholas, Hofherr Sean

Abstract excerpt

PurposeCurrent guidelines recommend first-tier chromosome microarray analysis (CMA) and fragile X syndrome (FX) testing for males with isolated intellectual disabilities/learning delay (ID/LD) and autism spectrum disorders (ASDs).MethodsMales in our clinic with ID/LD or ASD (310) were analyzed for positive results from CMA and/or FX testing.ResultsCMA detected abnormalities in 29% of males with ID/LD and only 9%...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Algorithms
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Syndrome

Share to Genetic Testing

Share to Infant

Share to Intellectual Disability

Share to Learning Disabilities

Share to Oligonucleotide Array Sequence Analysis

Source

Open in PubMed Open full text

Identifiers

PMID: 28541279
DOI: 10.1038/gim.2017.64
PMCID: PMC5702277

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Do the data really support ordering fragile X testing as a first-tier test without clinical features?PMID 28541279Read ↗

Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in KoreaSemantic proximity Read ↗

Analytical and Clinical Validity Study of FirstStep <sup>Dx</sup> PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental ConditionsSemantic proximity Read ↗

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesSemantic proximity Read ↗

The fragile X-associated disorders: time to order fragile X DNA testing.Semantic proximity Read ↗

Exploring Genetic Testing Requests, Genetic Alterations and Clinical Associations in a Cohort of Children with Autism Spectrum DisorderSemantic proximity Read ↗

Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.Semantic proximity Read ↗

Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.Semantic proximity Read ↗

The impact of chromosomal microarray on clinical management: a retrospective analysis.Semantic proximity Read ↗

Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: a New Zealand perspective.Semantic proximity Read ↗

Diagnosing fragile X syndrome.Semantic proximity Read ↗

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic servicesSemantic proximity Read ↗

Prevalence of fragile X syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.