Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Recurrence risks in mental retardation

Y J Crow1, J L Tolmie

  • 1Duncan Guthrie Institute of Medical Genetics, Yorkhill Hospitals NHS Trust, Glasgow, UK.

Journal of Medical Genetics
|April 16, 1998
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype.

Pediatric rheumatology online journal·2020
Same author

Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.

Clinical genetics·2017
Same author

ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters.

RMD open·2016
Same author

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

The British journal of dermatology·2015
Same author

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Nature communications·2015
Same author

Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy.

Lupus·2013
Same journal

Longest surviving patient with a homozygous splice-altering <i>EGFR</i> pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Journal of medical genetics·2026
Same journal

Functional characterisation and pathological significance of variants of <i>MEF2C</i> promoter in tetralogy of Fallot.

Journal of medical genetics·2026
Same journal

Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disability.

Journal of medical genetics·2026
Same journal

Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

Journal of medical genetics·2026
Same journal

Interpreting <i>TP53</i> variants: somatic mosaicism and <i>ERCC6L2</i>-driven clonal evolution.

Journal of medical genetics·2026
Same journal

Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome.

Journal of medical genetics·2026
See all related articles

Estimating recurrence risks for non-syndromal mental retardation relies on limited, inconsistent empirical data. This review addresses challenges in interpreting past studies to improve genetic counseling for affected families.

Area of Science:

  • Medical Genetics
  • Clinical Genetics
  • Developmental Disabilities

Background:

  • Accurate recurrence risk estimation for non-syndromal mental retardation is challenging due to limited empirical data.
  • Existing studies show significant variability in recurrence risk figures, complicating clinical guidance.
  • Improvements in genetic mapping contrast with the persistent need for reliable data in non-syndromal cases.

Purpose of the Study:

  • To review and highlight challenges in interpreting existing studies on recurrence risks for non-syndromal mental retardation.
  • To discuss the definition of mental retardation based on severity, phenotype, and inheritance patterns.
  • To inform the planning of future studies for deriving accurate and comparable risk figures.

Main Methods:

Related Experiment Videos

  • Literature review of studies on recurrence risks in non-syndromal mental retardation.
  • Analysis of definitions and classifications of mental retardation.
  • Discussion of empirical data variability and interpretation issues.

    • Main Results:

    • Recurrence risks for sibs of male index patients with severe mental retardation vary widely (3.5%-14%) in reported series.
    • Significant heterogeneity exists in previous research, hindering reliable risk assessment.
    • Current data is insufficient for precise genetic counseling in non-syndromal mental retardation.

    Conclusions:

    • Addressing definitional inconsistencies and methodological variations is crucial for future research.
    • Improved studies are needed to provide accurate and comparable risk figures for genetic counseling.
    • Better data will enhance support for families affected by non-syndromal mental retardation.