Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference30 articles.
1. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray;Baldwin;Genet Med,2008
2. Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21q25) and del(1)(q41q43);Beemer;Clin Genet,1985
3. Phenotypic clustering of lamin A/C mutations in neuromuscular patients;Benedetti;Neurology,2007
4. FOXL2 mutations and genomic rearrangements in BPES;Beysen;Hum Mutat,2009
5. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy;Bonne;Nat Genet,1999
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1. Genomic Characterization of a Rare, de Novo Unbalanced ins(3;1)(p25.3;q21.3q23.3) in a Female Child with Multiple Congenital Anomalies;Cytogenetic and Genome Research;2020
2. A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect;Cytogenetic and Genome Research;2018
3. Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring;Clinical Dysmorphology;2017-10
4. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017
5. A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction;American Journal of Medical Genetics Part A;2015-04-21
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