22q11. 2 deletion syndrome
Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …
Psychiatric disorders from childhood to adulthood in 22q11. 2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11. 2 Deletion …
Objective Chromosome 22q11. 2 deletion syndrome is a neurogenetic disorder associated
with high rates of schizophrenia and other psychiatric conditions. The authors report what is …
with high rates of schizophrenia and other psychiatric conditions. The authors report what is …
Estimate of the contemporary live-birth prevalence of recurrent 22q11. 2 deletions: a cross-sectional analysis from population-based newborn screening
C Blagojevic, T Heung, M Theriault… - … Open Access Journal, 2021 - cmajopen.ca
Background: Although pathogenic 22q11. 2 deletions are an important cause of
developmental delays and lifelong disease burden, their variable and complex clinical …
developmental delays and lifelong disease burden, their variable and complex clinical …
[HTML][HTML] Updated clinical practice recommendations for managing adults with 22q11. 2 deletion syndrome
E Boot, S Oskarsdottir, JCY Loo, TB Crowley… - Genetics in …, 2023 - Elsevier
This review aimed to update the clinical practice guidelines for managing adults with 22q11.
2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society recruited expert clinicians …
2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society recruited expert clinicians …
Chromosome 22q11. 2 deletion syndrome and DiGeorge syndrome
KE Sullivan - Immunological Reviews, 2019 - Wiley Online Library
Summary Chromosome 22q11. 2 deletion syndrome is the most common microdeletion
syndrome in humans. The effects are protean and highly variable, making a unified …
syndrome in humans. The effects are protean and highly variable, making a unified …
22q11. 21 deletion syndromes: a review of proximal, central, and distal deletions and their associated features
RD Burnside - Cytogenetic and Genome Research, 2015 - karger.com
Abstract Chromosome 22q11. 21 contains a cluster of low-copy repeats (LCRs), referred to
as LCR22A-H, that mediate meiotic non-allelic homologous recombination, resulting in …
as LCR22A-H, that mediate meiotic non-allelic homologous recombination, resulting in …
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents
Recurrent copy number variations (CNVs) are common causes of neurodevelopmental
disorders (NDDs) and associated with a range of psychiatric traits. These CNVs occur at …
disorders (NDDs) and associated with a range of psychiatric traits. These CNVs occur at …
Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis
AL Fenwick, M Kliszczak, F Cooper, J Murray… - The American Journal of …, 2016 - cell.com
DNA replication precisely duplicates the genome to ensure stable inheritance of genetic
information. Impaired licensing of origins of replication during the G 1 phase of the cell cycle …
information. Impaired licensing of origins of replication during the G 1 phase of the cell cycle …
22q11 deletion syndrome: current perspective
Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy
repeats or segmental duplications. This region of the chromosome is very unstable and …
repeats or segmental duplications. This region of the chromosome is very unstable and …
Maternal modifiers and parent-of-origin bias of the autism-associated 16p11. 2 CNV
MH Duyzend, X Nuttle, BP Coe, C Baker… - The American Journal of …, 2016 - cell.com
Recurrent deletions and duplications at chromosomal region 16p11. 2 are a major genetic
contributor to autism but also associate with a wider range of pediatric diagnoses, including …
contributor to autism but also associate with a wider range of pediatric diagnoses, including …