Why is "22q13" trending?
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- Date: 2026-04-05 07:28:53
This topic has appeared in the trending rankings 1 time(s) in the past year. While it does not trend frequently, its appearance suggests a renewed or concentrated surge of public interest.
Based on Wikipedia pageviews and search interest, this topic gained significant attention on the selected date.
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Wikipedia Overview
22q13 deletion syndrome,
known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations (phenotype) typical of a terminal deletion may be diagnosed as 22q13 deletion syndrome. There is disagreement among researchers as to the exact definition of 22q13 deletion syndrome. The Developmental Synaptopathies Consortium defines PMS as being caused by SHANK3 mutations, a definition that appears to exclude terminal deletions. The requirement to include SHANK3 in the definition is supported by many but not by those who first described 22q13 deletion syndrome.
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Trending Topic Today
Search Interest Perspective
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22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome - Nature
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New findings on Phelan-McDermid syndrome; and more - The Transmitter
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A 22q13.1 duplication in mosaicism including SOX10 - Wiley Online Library
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First site initiated for Neuren’s Phelan-McDermid syndrome Phase 3 trial - Biotech Dispatch
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Adult-Onset Psychosis and Clinical Genetics: A Case of Phelan-McDermid Syndrome - Psychiatry Online
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Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development - Nature
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My boy, 4, can't walk or talk yet but desperately tries - his condition is so rare it baffles doctors - The Sun
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Phelan-McDermid syndrome meets Big Data - Boston Children's Answers
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Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) (Contributed by Dr. Maria Clara Bonaglia) - BMJ Blogs
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Interstitial duplication of 20q11.22q13.11: A case report and review of literature - Wiley Online Library
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Drug fixes cellular defects in autism-related disorder - The Transmitter
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SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients - Nature
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Clinical research: Autism-related syndrome changes with age - The Transmitter
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Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome - Wiley Online Library
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Admixture Mapping of Alzheimer’s disease in Caribbean Hispanics identifies a new locus on 22q13.1 - Nature
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Mutations in autism gene may trigger milder effects than does its loss - The Transmitter
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Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome - Nature
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Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion - Nature
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Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 ( IL17REL - Nature
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Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome | Scientific Reports - Nature
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Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation - Nature
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Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing - Nature
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Rare form of autism shows unique pattern of regression - The Transmitter
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Genomic Sequencing Identifies Novel Genetic Loci in Spontaneous Pneumothorax - EMJ
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Isochromosome 22 in trisomy 22 mosaic with five cell lines - Guzé - 2004 - American Journal of Medical Genetics Part A - Wiley Online Library
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Why I Wore the Same Shirt for 365 Days for My Daughter's Health - The Mighty. Making health about people.
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SHANK3: the good, the bad and the hopeful - Baylor College of Medicine Blog Network -
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New family group pursues treatments for autism-linked syndrome - The Transmitter
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Brief Report: Sensory Reactivity in Children with Phelan-McDermid Syndrome - Autism Science Foundation
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Genetics: SHANK3 duplication leads to hyperactivity in mice - The Transmitter
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Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection - Nature
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Study catalogs features of Phelan-McDermid syndrome - The Transmitter
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First-ever Phelan-McDermid meeting has its Eureka moments - The Transmitter
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Cuomo proclaims day in honor of Staten Islander with rare condition - SILive.com
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DNA tags in placenta point to possible autism-linked gene - The Transmitter
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Neuren receives FDA approval - BioMelbourne Network
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Milla-Jayne's journey with Phelan-McDermid syndrome. - NZ Herald
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