Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference12 articles.
1. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
2. A Major Susceptibility Locus for Specific Language Impairment Is Located on 13q21
3. A new neocentromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotype
4. Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl
5. A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited.
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1. 16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing;European Journal of Human Genetics;2022-04-07
2. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome;Genome Medicine;2019-04-23
3. Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities;American Journal of Medical Genetics Part A;2017-12
4. Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q;Cytogenetic and Genome Research;2016
5. Three’s a crowd;Clinical Dysmorphology;2014-10
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