Mosaic variegated aneuploidy syndrome

Summary: Mosaic variegated aneuploidy (MVA) syndrome is a very rare predisposition to mitotic non-disjunction leading to a high level of different aneuploid cells, which causes there to be cells with missing chromosomes (monosomy) or too many chromosomes (trisomy). Less ...1

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Symptoms of Mosaic variegated aneuploidy syndrome

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Types of Mosaic variegated aneuploidy syndrome

Some types of this condition may include:2 Types of Mosaic Variegated Aneuploidy Syndrome:

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Genetics of Mosaic variegated aneuploidy syndrome

Modes of inheritance: Autosomal recessive inheritance (HPO, OMIM, Orphanet) Autosomal dominant inheritance (OMIM, Orphanet) ...Source: GTR (NCBI/NIH)3 ...

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Names and Terminology

Other Names: MVA syndrome; Warburton-Anyane-Yeboa syndrome ...Source: GARD (NIH)4 ...

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References

  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 3007/ mosaic-variegated-aneuploidy-syndrome
  2. Source: NCI Thesaurus
  3. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1850343/ 
  4. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 3007/ mosaic-variegated-aneuploidy-syndrome

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