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

Two sisters with Silver-Russell phenotype.

Katrin Ounap1, Tiia Reimand, Marja-Liis Mägi

  • 1Medical Genetics Center, United Laboratories, Tartu University Clinics, Tartu 51005 , Estonia. katrin.ounap@kliinikum.ee

American Journal of Medical Genetics. Part A
|November 4, 2004
PubMed
Summary

Silver-Russell syndrome (SRS) has a heterogeneous etiology, with familial recurrence suggesting autosomal recessive inheritance. This challenges the typical autosomal dominant classification, highlighting potential imprinting gene mutations or germline mosaicism.

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

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

medRxiv : the preprint server for health sciences·2026
Same author

Expanding the ABCA2-associated neurodevelopmental phenotype.

HGG advances·2026
Same author

Population-Based Study of Drug-Resistant Epilepsy Before Age Two: Predominance of Developmental and Epileptic Encephalopathies.

Neurology international·2026
Same author

Exploring the somatic mutational landscape of ovarian cancer in Estonia.

Acta oncologica (Stockholm, Sweden)·2026
Same author

Harmonizing the genetic counselor profession in Europe.

European journal of human genetics : EJHG·2026
Same author

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

medRxiv : the preprint server for health sciences·2026

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Silver-Russell syndrome (SRS) is a growth disorder characterized by intrauterine and postnatal growth retardation, with a distinctive facial appearance.
  • While often sporadic and presumed autosomal dominant due to de novo mutations, familial cases suggest alternative inheritance patterns.

Observation:

  • This report details two sisters diagnosed with SRS, exhibiting normal parental growth and features.
  • This represents a rare instance of familial SRS recurrence consistent with autosomal recessive inheritance.

Findings:

  • The heterogeneous etiology of SRS is further supported, with potential links to imprinting defects on chromosome 7.
  • Maternal uniparental disomy of chromosome 7 (mUPD7) in 10% of SRS cases points to imprinting gene dysfunction.

Related Experiment Videos

Implications:

  • Recurrence in siblings may indicate mutations in imprinted genes or imprinting centers, or germline mosaicism in a parent.
  • Further investigation into imprinting mechanisms is crucial for understanding SRS inheritance and recurrence risks.