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  2. A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterized in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections.

    Orphanet: Proximal Xq28 duplication syndrome

    www.orpha.net/en/disease/detail/1762
    www.orpha.net/en/disease/detail/1762
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  3. People also ask
    What is the size of Xq28 deletion in RTT patients?
    Another RTT patient has demonstrated an Xq28 deletion with the same distal breakpoint (arr Xq28 (153,108,683-153,648,227)×1), the size of which is 539,545 bp (Additional file 2: Figure S2).

    Xq28 (MECP2) microdeletions are common in mutation-negative femal…

    ncbi.nlm.nih.gov
    What is Xq28 duplication syndrome?
    See more... The int22h1/int22h2-mediated Xq28 duplication syndrome is an X-linked intellectual disability syndrome characterized by variable degrees of cognitive impairment (typically more severe in males), a wide spectrum of neurobehavioral abnormalities, and variable facial dysmorphic features.

    Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated

    ncbi.nlm.nih.gov
    What is distal Xq28 duplication?
    Within the same Xq28 region lies the distal Xq28 duplication, also known as int22h1/int22h2-mediated Xq28 duplication syndrome. This X-linked intellectual disability syndrome presents with a spectrum of cognitive impairments, a wide array of neurobehavioral anomalies, and variable facial dysmorphisms.

    Exploring inheritance, and clinical penetrance of distal Xq28

    nature.com
    What are the differential diagnoses of Xq28 functional disomy?
    Differential diagnoses include Xq28 functional disomy due to cytogenetically visible rearrangements, int22h1/int22h2-mediated Xq28 duplication syndrome, Prader-Willi syndrome, Alpha thalassemia X-linked intellectual disability syndrome.

    Orphanet: Proximal Xq28 duplication syndrome

    orpha.net
    Are Xq28 microdeletions associated with phenotype of RTT?
    An attempt at correlation between genotype and phenotype in reported cases and cases with MECP2 mutations has shown that Xq28 ( MECP2) microdeletions are likely to cause specific subtypes of RTT, which are clinically milder than the phenotype resulted from intragenic MECP2 sequence variations.

    Xq28 (MECP2) microdeletions are common in mutation-negative femal…

    ncbi.nlm.nih.gov
    Does K/L-mediated Xq28 duplication syndrome affect neurocognitive features?
    In a relevant study by Leffler et al., which examined 25 reported cases of K/L-mediated Xq28 duplication syndrome, a condition within the same genetic region but involving different genes, males displayed varying degrees of neurocognitive features.

    Exploring inheritance, and clinical penetrance of distal Xq28

    nature.com
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  4. Genetic and Rare Diseases Information Center
    https://rarediseases.info.nih.gov/diseases/15266/...

    Chromosome xq28 duplication syndrome | About the Disease

    See results only from rarediseases.info.nih.gov
     
  5. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/books/NBK349624

    Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated

    Mar 10, 2016 · The int22h1/int22h2-mediated Xq28 duplication syndrome is an X-linked intellectual disability syndrome characterized by variable degrees of …

    • Author: Ayman W El-Hattab, Christian P Schaaf, Sau Wai Cheung
    • Published: 2021/02/25
    • Publish Year: 2016
  6. Studies of xq28 deletion syndrome
    National Center for Biotechnology Information
    Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease
    Background Rett syndrome (RTT) is an X-linked neurodevelopmental disease affecting predominantly females caused by MECP2 mutations. Although RTT is classically considered a monogenic disease, a stable proportion of patients, who do not exhibit MECP2 sequence variations, does exist. Here, we have at...
    Author: Ivan Y Iourov, …
    Published: 2013
    Publication: Mol Cytog…
    PubMed
    Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature
    The contiguous ABCD1/DXS1375E (BCAP31) deletion syndrome (CADDS) is a rare X-linked contiguous gene deletion syndrome with a severe clinical phenotype that includes marked delays, significant growth failure, liver dysfunction, and early death. The X-linked creatine transporter deficiency is a consid...
    Author: Amy R U L Cal…
    Published: 2014/10
    Keywords: ABCD1; AB…
    PubMed
    Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease
    Background: Rett syndrome (RTT) is an X-linked neurodevelopmental disease affecting predominantly females caused by MECP2 mutations. Although RTT is classically considered a monogenic disease, a stable proportion of patients, who do not exhibit MECP2 sequence variations, does exist. Here, we have at...
    Author: Ivan Y Iourov
    Published: 2013/11/27
    Keywords: Rett syndro…
    PubMed
    Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation
    Background: Global developmental delay and mental retardation are associated with X-linked disorders including Hunter syndrome (mucopolysaccharidosis type II) and Fragile X syndrome (FXS). Single nucleotide mutations in the iduronate 2-sulfatase (IDS) gene at Xq28 most commonly cause Hunter syndrome...
    Author: Lauren S Mars…
    Published: 2013/05/01
    Keywords: Global dev…
  7. National Organization for Rare Disorders
    https://rarediseases.org/rare-diseases/mecp2-duplication-syndrome

    MECP2 Duplication Syndrome - Symptoms, Causes, Treatment

  8. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/books/NBK1284

    MECP2 Duplication Syndrome - GeneReviews®

    Jan 18, 2008 · On chromosome fragment Xq28, the int22h1/int22h2-mediated Xq28 duplication syndrome has been described, caused by 0.5-Mb duplication …

    • Author: Hilde Van Esch
    • Published: 2020/05/21
    • Publish Year: 2011
  9. American Society of Hematology
    https://ashpublications.org/blood/article/123/25/...

    Novel severe hemophilia A and moyamoya (SHAM) syndrome …

  10. Genetic and Rare Diseases Information Center
    https://rarediseases.info.nih.gov/diseases/9781/...

    Proximal Xq28 duplication syndrome | About the Disease | GARD

  11. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176196

    Xq28 (MECP2) microdeletions are common in mutation-negative …

  12. PubMed
    https://pubmed.ncbi.nlm.nih.gov/25044748

    Distal Xq28 microdeletions: clarification of the spectrum of

  13. OMIM
    https://www.omim.org/entry/300815

    Entry - #300815 - CHROMOSOME Xq28 DUPLICATION …

  14. Nature
    https://www.nature.com/articles/ejhg2008208

    Structural variation in Xq28: MECP2 duplications in 1% of ... - Nature

  15. Orphanet
    https://www.orpha.net/en/disease/detail/1762

    Orphanet: Proximal Xq28 duplication syndrome

  16. Molecular Cytogenetics
    https://molecularcytogenetics.biomedcentral.com/...

    Xq28 (MECP2) microdeletions are common in mutation-negative …

  17. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/gtr/conditions/C2749007

    Chromosome Xq28 duplication syndrome - NIH Genetic Testing …

  18. Nature
    https://www.nature.com/articles/s10038-024-01252-7

    Exploring inheritance, and clinical penetrance of distal Xq28 ...

  19. Wiley Online Library
    https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36661

    Distal Xq28 microdeletions: Clarification of the spectrum of …

  20. Nature
    https://www.nature.com/articles/hgv20141

    Clinical impacts of genomic copy number gains at Xq28

  21. PubMed
    https://pubmed.ncbi.nlm.nih.gov/24283533

    Xq28 (MECP2) microdeletions are common in mutation-negative …

  22. PubMed
    https://pubmed.ncbi.nlm.nih.gov/23634718

    Deletion Xq27.3q28 in female patient with global developmental …

  23. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/gtr/conditions/C3806634

    Severe motor and intellectual disabilities-sensorineural deafness ...

  24. BMC Medical Genetics
    https://bmcmedgenet.biomedcentral.com/articles/10...

    Clinical characterization of int22h1/int22h2-mediated Xq28 …