Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference13 articles.
1. Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype–phenotype correlation;Bernardini;Eur. J. Med. Genet.,2007
2. Origins of accessory small ring marker chromosomes derived from chromosome 1;Callen;J. Med. Genet.,1999
3. Mosaic trisomy of a small r(1) with an abnormal phenotype;Dawson;Am. J. Med. Genet.,2001
4. A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1-evidence for high variability in mosaicism in different tissues of sSMC carriers;Fickelscher;Prenat. Diagn.,2007
5. Inherited ring chromosomes. An analysis of published cases;Kosztolànyi;Hum. Genet.,1991
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1. Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report;Clinical Case Reports;2023-04
2. Ring chromosomes: from formation to clinical potential;Protoplasma;2017-09-12
3. Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome;American Journal of Medical Genetics Part A;2016-01-18
4. Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes;Molecular Cytogenetics;2013
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