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Rare X-linked genomic disorderXq28 deletion syndrome is a rare X-linked genomic disorder12. In males, it is characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features1. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism1.Learn more:✕This summary was generated using AI based on multiple online sources. To view the original source information, use the "Learn more" links.A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.www.orpha.net/en/disease/detail/293939A 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.www.orpha.net/en/disease/detail/1762Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
- Published: 2021/02/25
- Authors: Rami A Ballout, Ayman W El-Hattab, Christian P …
- Affiliations: Postdoctoral Research Fellow, Lipoprotein Me…
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.Chromosome xq28 duplication syndrome | About the Disease
WEBChromosome Xq28 duplication syndrome is a rare genetic condition. This syndrome is characterized by intellectual disability, neurobehavioral differences, and atypical facial …
- Studies of xq28 deletion syndrome
MECP2 Duplication Syndrome - Symptoms, Causes, Treatment
WEBMar 22, 2017 · MECP2 duplication syndrome is caused by the duplication of genetic material on a specific region on the X chromosome (Xq28). This region includes the …
Proximal Xq28 duplication syndrome | About the Disease | GARD
WEBProximal Xq28 duplication syndrome is a severe neurological and developmental disorder. Signs and symptoms include low muscle tone (hypotonia) in infancy, developmental …
Chromosome Xq28 duplication syndrome - NIH Genetic Testing …
WEBThe int22h1/int22h2-mediated Xq28 duplication syndrome is an X-linked intellectual disability syndrome characterized by variable degrees of cognitive impairment …
Xq28 (MECP2) microdeletions are common in mutation-negative …
WEBNov 27, 2013 · An attempt at correlation between genotype and phenotype in reported cases and cases with MECP2 mutations has shown that Xq28 (MECP2) microdeletions …
Entry - #300815 - CHROMOSOME Xq28 DUPLICATION …
WEBMar 12, 2014 · A mother and daughter from a fourth family were found to carry a heterozygous reciprocal deletion of Xq28 with 100% skewed X-chromosome …
Orphanet: Proximal Xq28 duplication syndrome
WEBA rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterized in males by infantile onset …
WEBThese syndromes are caused by duplications within the q28 region of the X chromosome. These duplications can vary in exact size and location from person to person. The exact …
Chromosome xq28 duplication syndrome | Getting a Diagnosis
WEBLearn about diagnosis and specialist referrals for Chromosome xq28 duplication syndrome.
WEBAn Xq28 duplication means that the cells of the body have an extra amount of genetic material from one of their 46 chromosomes – the X chromosome. These duplications …
Distal Xq28 microdeletions: clarification of the spectrum of
WEBThe contiguous ABCD1/DXS1375E (BCAP31) deletion syndrome (CADDS) is a rare X-linked contiguous gene deletion syndrome with a severe clinical phenotype that includes …
Xq28 (MECP2) microdeletions are common in mutation-negative …
WEBNov 27, 2013 · Our data indicate for the first time that no fewer than 25% of RTT cases without detectable MECP2 mutations are caused by Xq28 microdeletions. Furthermore, …
Orphanet: Distal Xq28 microduplication syndrome
WEBDistal Xq28 microduplication syndrome. A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, …
Exploring inheritance, and clinical penetrance of distal Xq28 ...
WEBApr 18, 2024 · Distal Xq28 duplication, or int22h1/int22h2-mediated Xq28 duplication syndrome, leads to cognitive impairment, neurobehavioral issues, and facial …
Novel severe hemophilia A and moyamoya (SHAM) syndrome …
WEBJun 19, 2014 · Next-generation sequencing followed by long-range polymerase chain reaction (Figure 1 and supplemental Materials) demonstrated a large Xq28 deletion of …
Severe motor and intellectual disabilities-sensorineural deafness ...
WEBDeafness, dystonia, and cerebral hypomyelination is an X-linked recessive mental retardation syndrome characterized by almost no psychomotor development, …
Distal Xq28 microdeletions: Clarification of the spectrum of …
WEBJul 9, 2014 · The contiguous ABCD1/DXS1375E (BCAP31) deletion syndrome (CADDS) is a rare X-linked contiguous gene deletion syndrome with a severe clinical phenotype that …
Clinical impacts of genomic copy number gains at Xq28
WEBJul 24, 2014 · Heterozygous females with random XCI, but not females with functional Xq28 disomy derived from translocation between autosomal chromosomes, show clinical …
Deletion Xq27.3q28 in female patient with global developmental …
WEBMay 1, 2013 · Single nucleotide mutations in the iduronate 2-sulfatase (IDS) gene at Xq28 most commonly cause Hunter syndrome while a CGG expansion in the FMR1 gene at …
Clinical characterization of int22h1/int22h2-mediated Xq28 …
WEBMar 14, 2015 · Int22h1/int22h2-mediated Xq28 duplication syndrome is caused by ~0.5 Mb chromosomal duplications mediated by nonallelic homologous recombination between …
Xq28 (MECP2) microdeletions are common in mutation-negative …
WEBNov 27, 2013 · Our data indicate for the first time that no fewer than 25% of RTT cases without detectable MECP2 mutations are caused by Xq28 microdeletions. Furthermore, …
Xq27.3q28 duplication syndrome - NIH Genetic Testing Registry …
WEBChromosome Xq27.3-q28 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by mild mental retardation, mild facial …
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