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22q13 Deletion Syndrome - Crossref

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Last Updated: 10 June 2022

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

"The phenotype of SHANK3 deficiency has been mainly found in case studies, with no analysis of behavioral and cognitive deficits. " Methods A team of child psychiatrists, neurologists, clinical geneticists, molecular geneticists, and psychologists tested a sample of patients with SHANK3 deficiencies, which was later identified by a team of child psychiatrists, neurologists, epidemiologists, geneticists, molecular geneticists, and psychologists. Using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-G, patients were tested for autism spectrum disorder. Results Thirty participants with 22q13. 3 deletions ranging from 101 kb to 8. 45 Mb were included, as well as two participants with de novo SHANK3 mutations. The sample was characterized by high incidences of autism spectrum disorder, with 27 meeting autism spectrum disorder and 24 for autistic disorder. Several key alterations or point mutations were discovered in SHANK3 haplogensufficiency, including ASD, seizures, and abnormal EEG, hypotonia, sleep disturbances, abnormal brain MRI, gastroesophageal reflux, and other common dysmorphic characteristics, according to Analyses of individuals with small deletions or point mutations.

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


Central precocious puberty in a boy with 22q13 deletion syndrome and NOTCH-1 gene duplication

"Abstract The 22q13 deletion syndrome, hypotonia, postponed or absent speech, autistic-like behaviour, accelerant growth, and dysmorphic faces is a developmental disorder related to developmental delay, hypotonia, delayed or absent speech, Phelan-McDermid syndrome. " We report the occurrence of central precocious puberty in a boy with Phelan-McDermid syndrome. Our patient had increased testicular volume for his age, bone age, and growth acceleration at the age of 1 year.

Source link: https://doi.org/10.1515/jpem-2015-0484


22q13 Deletion Syndrome: An Update and Review for the Primary Pediatrician

"Recent advances in genetic analysis can help to diagnose children with syndromes that result in congenital anomalies and developmental delay. " From suspecting the illness in a developmental delayed child to the medical, developmental, and behavioral aspects of their care, primary-care physicians play a key role in children with 22q13 deletion syndrome.

Source link: https://doi.org/10.1177/000992280404300106


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

"Introduction Phelan-McDermid syndrome is caused by a SHANK3 haploinsufficiency. " Methods Following the cytogenetic and array-comparative genomic hybridization detection of a r with SHANK3 deletion and two upstream duplications, whole-genome sequencing in blood and saliva were performed to identify potential chromothripsis/chromoanagenesis events and any potential BPP-associated variants, as well as low-level mosaicism. Conclusions: Although we were unable to highlight the molecular basis of BPP, our results show that SHANK3 haploinsufficiency and TCF20 misregulation, both related to intellectual disability, contributed to the patient's NDD, while NFAM1 interruptions caused her skin rashes, as previously reported. We present the first example of chromoanasynthesis in a constitutional ring chromosome, as well as increasing evidence that chromosomal rearrangements are more complicated than estimated by conventional diagnostic methods 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

* 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