Low-level mosaicism of a de novo derivative chromosome 9 from a t(5;9)(q35.1;q34.3) has a major phenotypic impact
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference18 articles.
1. Sotos syndrome;Baujat;Orphanet J Rare Dis,2007
2. Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q;Chen;Am J Med Genet A,2006
3. Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome;Dempsey;Am J Med Genet A,2007
4. The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?;Dikow;Am J Med Genet A,2013
5. Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation;Gijsbers;Eur J Med Genet,2011
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1. Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts;Frontiers in Genetics;2022-07-25
2. Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants;Molecular Genetics & Genomic Medicine;2022-02-04
3. Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation;American Journal of Medical Genetics Part A;2021-08-06
4. The clinical implementation of copy number detection in the age of next-generation sequencing;Expert Review of Molecular Diagnostics;2018-09-27
5. EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction;Molecular Autism;2018-01-25
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