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Chromosome 22 Central

@C22Central

🧬C22C official. Support & info for chromosome 22 disorders. 22q11-, 22q11Dup, Emanuel Syndrome, PMS, 22q13-, Trisomy 22, Cat Eye Syndrome #c22c #genetics🧬

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Joined June 2020
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Groundbreaking Study Uncovers Link Between Mitochondrial Vulnerability and Neurovascular Function in Neuropsychiatric Disorders bioengineer.org/groundbreaki… #22q
Groundbreaking Study Uncovers Link Between Mitochondrial Vulnerability and

Groundbreaking Study Uncovers Link Between Mitochondrial Vulnerability and

Philadelphia, August 20, 2025 – A groundbreaking study emerging from a collaborative effort between the University of Pennsylvania School of Veterinary Medicine (Penn Vet) and the Children’s Hospital...

bioengineer.org
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Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report publications.aap.org/pediatr… #22q #22q11

Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report

22q11.2 deletion syndrome is the most frequent chromosomal microdeletion syndrome, with an estimated frequency of about 1/4000 in children younger than 1 year. Associated features in neonates and...

publications.aap.org
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Influence of Polygenic Risk on Height and BMI in Adults With a 22q11.2 Microdeletion academic.oup.com/jes/article… #22q #22q11
Influence of Polygenic Risk on Height and BMI in Adults With a 22q11.2 Microdeletion

Influence of Polygenic Risk on Height and BMI in Adults With a 22q11.2 Microdeletion

AbstractContext. Elevated a priori risk may enhance the likelihood that common variant effects, captured collectively in a polygenic risk score (PRS), appr

academic.oup.com
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Congenital heart disease in 22q11.2 deletion syndrome: a meta-analysis and systematic review of the literature jmg.bmj.com/content/early/20… #22q #22q11
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Parental Education Predicts Longitudinal IQ Trajectories in 22q11.2 Deletion Syndrome: A Three‐Cohort European Study - Snihirova - Journal of Intellectual Disability Research - Wiley Online Library onlinelibrary.wiley.com/doi/… #22q #22q11
Parental Education Predicts Longitudinal IQ Trajectories in 22q11.2 Deletion Syndrome: A Three‐Co...

Parental Education Predicts Longitudinal IQ Trajectories in 22q11.2 Deletion Syndrome: A Three‐Co...

Background 22q11.2 deletion syndrome (22q11DS) is a genetic disorder characterised by a wide range of physical, cognitive, and psychiatric symptoms. Current knowledge on 22q11DS highlights consider...

onlinelibrary.wiley.com
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frontiersin.org/journals/psy… #22q #22q11
Frontiers | Investigating the relationship between sleep disturbances and psychopathology In...

Frontiers | Investigating the relationship between sleep disturbances and psychopathology In...

Introduction22q11.2 deletion syndrome (22q11.2DS), also known as velo-cardiofacial syndrome or DiGeorge syndrome (DGS) is highly variable in phenotype, encom...

frontiersin.org
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Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report publications.aap.org/pediatr… #22q #22q11

Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report

22q11.2 deletion syndrome is the most frequent chromosomal microdeletion syndrome, with an estimated frequency of about 1/4000 in children younger than 1 year. Associated features in neonates and...

publications.aap.org
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Oxytocin seals the blood–brain barrier, improving 22q11.2 deletion syndrome trajectories academic.oup.com/brain/artic… #22q #22q11
Oxytocin seals the blood–brain barrier, improving 22q11.2 deletion syndrome trajectories

Oxytocin seals the blood–brain barrier, improving 22q11.2 deletion syndrome trajectories

Castellani et al. show that intranasal administration of oxytocin during the neonatal period alleviates behavioural and immune alterations in a mouse model

academic.oup.com
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Healthcare Transition to Adulthood in Patients with 22q11.2 Deletion Syndrome: A Comprehensive Literature Review and Transition Framework - #22q #22q11 pubmed.ncbi.nlm.nih.gov/4022…
Healthcare Transition to Adulthood in Patients with 22q11.2 Deletion Syndrome: A Comprehensive...

Healthcare Transition to Adulthood in Patients with 22q11.2 Deletion Syndrome: A Comprehensive...

22q11.2 deletion syndrome (22q11.2DS) is a complex genetic disorder characterized by a wide range of comorbidities requiring multidisciplinary care across the lifespan. As patients transition from...

pubmed.ncbi.nlm.nih.gov
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Gene dosage effects of 22q11.2 copy number variants on in-vivo measures of white matter axonal density and dispersion - #22q #22q11 pubmed.ncbi.nlm.nih.gov/4050…
Gene dosage effects of 22q11.2 copy number variants on in-vivo measures of white matter axonal...

Gene dosage effects of 22q11.2 copy number variants on in-vivo measures of white matter axonal...

22q11.2 deletion (22qDel) and duplication (22qDup) carriers have an increased risk of neurodevelopmental disorders and exhibit altered brain structure, including white matter microstructure. However,...

pubmed.ncbi.nlm.nih.gov
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22q11.2 Deletion Syndrome: Cognitive, Visuomotor, and Adaptive Functioning Followed Longitudinally - #22q #22q11 pubmed.ncbi.nlm.nih.gov/4052…
22q11.2 Deletion Syndrome: Cognitive, Visuomotor, and Adaptive Functioning Followed Longitudinally...

22q11.2 Deletion Syndrome: Cognitive, Visuomotor, and Adaptive Functioning Followed Longitudinally...

While group-level intellectual functioning appeared stable, individual declines were noted. Long-term follow-up is essential for personalized support to mitigate severe psychiatric risks, including...

pubmed.ncbi.nlm.nih.gov
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Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion Syndrome - #22q #22q11 pubmed.ncbi.nlm.nih.gov/4053…
Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion...

Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion...

We demonstrate that movement disorders in adults with 22q11.2DS exhibit greater clinical complexity than previously reported, which could reflect innate vulnerability and pathologic mechanisms beyond...

pubmed.ncbi.nlm.nih.gov
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Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome - #22q13 #phelanmcdermidsyndrome pubmed.ncbi.nlm.nih.gov/4051…
Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome - PubMed

Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome - PubMed

Phelan-McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disabil...

pubmed.ncbi.nlm.nih.gov
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A Proposal for Neurocognitive Assessment in Spanish-Speaking Adults With Phelan-McDermid Syndrome: A Case Report - #22q13 #phelanmcdermidsyndrome pubmed.ncbi.nlm.nih.gov/4060…
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Immunological and clinical characteristics in a cohort of Colombian pediatric patients with 22q11.2 deletion - #22q #22q11 pubmed.ncbi.nlm.nih.gov/4061…
Immunological and clinical characteristics in a cohort of Colombian pediatric patients with 22q11.2...

Immunological and clinical characteristics in a cohort of Colombian pediatric patients with 22q11.2...

22q11.2 deletion syndrome (22qDS) is a heterogeneous genetic disorder associated with a variety of clinical manifestations, including congenital heart disease, neuropsychiatric disorders, hypocalce...

pubmed.ncbi.nlm.nih.gov
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How does altered function of the hippocampus contribute to the development of psychosis? - #22q #22q11 pubmed.ncbi.nlm.nih.gov/4062…
How Does Altered Function of the Hippocampus Contribute to the Development of Psychosis? - PubMed

How Does Altered Function of the Hippocampus Contribute to the Development of Psychosis? - PubMed

In this review, we explore the critical role of hippocampal dysfunction in the pathophysiology of psychosis, focusing on translational insights from 22q11.2 deletion syndrome (22q11DS). Converging...

pubmed.ncbi.nlm.nih.gov
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Brain connectivity shift across puberty may explain autism risk in 22q11.2 deletion syndrome via @psypost psypost.org/brain-connectivi… #22q11 #22q #autism
Brain connectivity shift across puberty may explain autism risk in 22q11.2 deletion syndrome

Brain connectivity shift across puberty may explain autism risk in 22q11.2 deletion syndrome

Scientists have uncovered how puberty reshapes brain connectivity in 22q11.2 deletion syndrome, a genetic condition linked to autism and schizophrenia. The findings highlight how changes in synapses...

psypost.org
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Age-Related Dysphagia Among Children with 22q11.2-Deletion Syndrome pubmed.ncbi.nlm.nih.gov/4043…
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Assessment of vascular tortuosity in 22q11.2 deletion syndrome using optical coherence tomography angiography pubmed.ncbi.nlm.nih.gov/4025… #22q #22q11
Assessment of vascular tortuosity in 22q11.2 deletion syndrome using optical coherence tomography...

Assessment of vascular tortuosity in 22q11.2 deletion syndrome using optical coherence tomography...

VTI was identified as a predictor of 22q11.2DS, providing an objective measure of retinal vascular tortuosity. OCTA revealed previously unrecognized microvascular alterations, supporting its use as a...

pubmed.ncbi.nlm.nih.gov
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Presence, severity, and functional associations of incomplete hippocampal inversion in 22q11.2 deletion syndrome pubmed.ncbi.nlm.nih.gov/4028… #22q #22q11
Presence, Severity, and Functional Associations of Incomplete Hippocampal Inversion in 22q11.2...

Presence, Severity, and Functional Associations of Incomplete Hippocampal Inversion in 22q11.2...

These findings highlight a high prevalence of hippocampal morphological alterations in 22q11DS, which are associated with memory performance. Earlier developmental and longitudinal studies are needed...

pubmed.ncbi.nlm.nih.gov
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