ArticleMolecular cytogenetics2017
Mosaic UPD(7q)mat in a patient with silver Russell syndrome.
Article in Molecular cytogenetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- Prenatal Detection of Silver-Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach.Medicina (Kaunas, Lithuania) · 2025Article
- Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in theFrontiers in immunology · 2021Article
- Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome.Journal of clinical laboratory analysis · 2020Article
- Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Review
- Homozygous Deletion of theJournal of pediatric genetics · 2019Article
- Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.Frontiers in genetics · 2018Article
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSilver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ~ 10% of SRS cases are known to be associated with maternal uniparental disomy of chromosome 7 (UPD(7)mat). Mosaic maternal segmental UPD of 7q (UPD(7q)mat) is very rare, had only been described in one case before. CASE PRESENTATION: We reported a second case of mosaic segmental UPD involving 7q. The patient presented with dysmorphic features including thin and short stature, triangular face, moderate protruding forehead, relative macrocephaly, fifth toe clinodactyly and irregular teeth, meeting the clinical diagnosed criteria of SRS. This case indicated that ~ 80% of mosaic UPD(7q)mat lead to the manifestation of main phenotypes of Silver-Russell syndrome.
conclusionsOur case support the notion that there are genes control postnatal growth on long arm of chromosome 7 and indicate that ~ 80% of UPD(7q)mat mosaicism level was contributed to the SRS phenotype.
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