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22q13 Deletion Syndrome - Crossref

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Last Updated: 10 November 2022

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Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)

We investigated a child with pronounced global neurodevelopmental delay correlated with her distal 22q13 deletion, which was complicated by bilateral permylvian polymicrogyria and urticarial rashes, which was unreported in PMS. Methods Following the cytogenetic and array-comparative genomic hybridization analysis of a r with SHANK3 deletion and two upstream duplications, as well as any potential BPP-related variants, especially in low-level mosaicism. The microhomology-mediated addition of partial Alu- elements at one breakpoint junction disrupted the topological associating domain encoding domain involving NFAM1 to the transcriptional coregulator TCF20. We provide the first example of chromoanasynthesis in a constitutional ring chromosome and expand the growing body of evidence that chromosomal rearrangements could be more complicated than conventional diagnostic procedures and influence the phenotype by global change of the topological chromatin organization rather than simply by deletion or duplication of dose-sensitive genes.

Source link: https://doi.org/10.1136/jmedgenet-2017-105125


Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

The clinical findings of 7 patients with the 22q13 deletion syndrome are presented in this article, along with psychological assessments, clinical genetic analysis, direct behavioural observation, and interview of family members and/or caregivers, supplemented by behavioural questionnaires. On the one hand, a SHANK3 deletion may lead to a dysfunctional nervous system, more susceptible to developmental and psychiatric disorders, and less able to recover after psychiatric and somatic events, and on the other hand, it could be longer vulnerable to degeneration at long term.

Source link: https://doi.org/10.1159/000339119


Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

Methods A team of child psychiatrists, neurologists, clinical geneticists, molecular geneticists, and psychologists evaluated a sample of patients with SHANK3 deficiency in a serially ascertained sample of SHANK3 deficiency. Patients were tested for autism spectrum disorder using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-G. The sample was characterised by high incidences of autism spectrum disorder (ASD) and 24 for autistic disorder. Analyses of individuals with small deletions or point mutations identified SHANK3 haplogensufficiency, including ASD, seizures, and abnormal EEG, hypotonia, sleep disorders, abnormal brain MRI, gastroesophageal reflux, and certain dysmorphic characteristics. This paper supplements findings from previous research into the prevalence of intellectual, motor, and speech abnormalities in SHANK3 deficiency, as well as the prevalence of autism spectrum disorders in the condition.

Source link: https://doi.org/10.1186/2040-2392-4-18

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions