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GTR Home > Tests > qCarrier Plus

qCarrier Plus

  • GTR Test IDHelp: GTR000552567.1
  • Last updated: 2020-01-23
  • Annual Review past due read more
  • Test version history

Clinical testHelp for FRAXE
Offered by Quantitative Genomic Medicine Laboratories, SL

Indication

This is a clinical test intended for Help: Risk Assessment, Screening

Clinical summary

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Imported from OMIM

Intellectual developmental disorder-109 (MRX109) is characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior (summary by Bensaid et al., 2009). The disorder, which is associated with a fragile site on chromosome Xq28 (FRAXE), can be caused either by silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene (Stettner et al., 2011).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Aggressive behavior
  • Fetal distress
  • Fetal growth restriction
  • Hoarse voice
  • Impulsivity
  • Agitation
  • Short stature
  • Hyperactivity
  • Delayed speech and language development
  • Poor coordination
  • Compulsive behaviors
  • Epicanthus
  • Thick vermilion border
  • Prominent nasal bridge
  • Long upper lip
  • Intellectual disability
  • Recurrent hand flapping
  • Stereotypical body rocking
  • Microcephaly
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Inheritance pattern

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X-linked recessive inheritance , Autosomal recessive inheritance

Conditions tested

Target population

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Preconceptional context

Citations

  • NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. - PubMed ID: 26990548

Clinical validity

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Not provided

Clinical utility

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Not provided

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