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Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Epistasis01:39

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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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Genomic Imprinting and Inheritance

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Related Experiment Video

Updated: Jun 10, 2026

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

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Epigenotype-phenotype correlations in Silver-Russell syndrome.

E L Wakeling1, S Abu Amero, M Alders

  • 1North West Thames Regional Genetic Service, Kennedy-Galton Centre, Level 8V, North West London Hospitals NHS Trust, Watford Rd, Harrow, Middlesex HA1 3UJ, UK. e.wakeling@imperial.ac.uk

Journal of Medical Genetics
|August 6, 2010
PubMed
Summary
This summary is machine-generated.

Silver-Russell syndrome (SRS) diagnosis is challenging due to overlapping symptoms. This study differentiates between maternal uniparental disomy of chromosome 7 (mUPD7) and imprinting control region 1 (ICR1) hypomethylation, identifying distinct clinical features for each subgroup.

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Published on: November 3, 2010

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Silver-Russell syndrome (SRS) presents with intrauterine growth restriction, postnatal growth failure, relative macrocephaly, a triangular face, and asymmetry.
  • Molecular causes include maternal uniparental disomy of chromosome 7 (mUPD7) in 5-10% and imprinting control region 1 (ICR1) hypomethylation in up to 60% of patients.
  • The non-specific nature of SRS features complicates diagnosis, highlighting the need for studies on molecularly confirmed cases.

Purpose of the Study:

  • To investigate and compare the clinical phenotypes associated with mUPD7 and ICR1 hypomethylation in Silver-Russell syndrome.
  • To identify distinct clinical markers that may aid in differentiating between these two molecular subgroups of SRS.
  • To provide valuable clinical information for the diagnosis and management of SRS patients with confirmed molecular diagnoses.

Main Methods:

  • A prospective study was conducted on 64 patients diagnosed with SRS.
  • Patients were categorized into two molecular subgroups: mUPD7 (n=20) and ICR1 hypomethylation (n=44).
  • Detailed clinical data was collected and analyzed to identify differences between the two groups.

Main Results:

  • Significant overlap in clinical features between mUPD7 and ICR1 hypomethylation subgroups was observed, making reliable distinction difficult.
  • ICR1 hypomethylation was more frequently associated with 'classical' SRS features, asymmetry, fifth finger clinodactyly, and congenital anomalies.
  • Learning difficulties and speech therapy referrals were more common in the mUPD7 group, which also showed a higher incidence of mild movement disorders.
  • No correlation was found between clinical severity and the level of ICR1 hypomethylation.

Conclusions:

  • The clinical overlap between mUPD7 and ICR1 hypomethylation necessitates a low threshold for molecular investigation in suspected SRS cases.
  • Distinct clinical features, such as asymmetry and congenital anomalies for ICR1 hypomethylation, and learning difficulties for mUPD7, can aid in subgroup identification.
  • Assisted reproductive technology use appears increased in ICR1 hypomethylation cases, and while recurrence risk is generally low, affected siblings were observed.