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Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease
- Published: 2013
- Authors: Ivan Y Iourov, Svetlana G Vorsanova, Victoria Y …
- DOI: 10.1186/1755-8166-6-53
- Publication: Mol Cytogenet. 2013; 6: 53.
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...Xq28 - Wikipedia
Xq28 is a chromosome band and genetic marker situated at the tip of the X chromosome which has been studied since at least 1980. The band contains three distinct regions, totaling about 8 Mbp of genetic information. The marker came to the public eye in 1993 when studies by Dean Hamer and others indicated a link between the Xq28 marker and male sexual orientation.
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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
- Studies of xq28 deletion
MECP2 Duplication Syndrome - Symptoms, Causes, Treatment
Mar 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 MECP2 gene and …
Exploring inheritance, and clinical penetrance of distal Xq28
Apr 18, 2024 · Distal Xq28 duplication, or int22h1/int22h2-mediated Xq28 duplication syndrome, leads to cognitive impairment, neurobehavioral issues, and facial dysmorphisms.
Severe motor and intellectual disabilities-sensorineural deafness ...
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome. Synonyms. Chromosome Xq28 deletion syndrome. Modes of inheritance. Autosomal recessive …
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Distal Xq28 microdeletions: clarification of the spectrum of
The X-linked creatine transporter deficiency is a considerably more common and a cause of X-linked intellectual disability; however, multi-exon deletions of the creatine transporter are rare. …
Entry - #300815 - CHROMOSOME Xq28 DUPLICATION …
Mar 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 inactivation of the chromosome …
Xq28 (MECP2) microdeletions are common in mutation-negative …
Nov 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, Xq28 …
Distal Xq28 microdeletions: Clarification of the spectrum of …
The X-linked creatine transporter deficiency is a considerably more common and a cause of X-linked intellectual disability; however, multi-exon deletions of the creatine transporter are rare. …
The systematic functional characterisation of Xq28 genes …
Published: 17 February 2006. The systematic functional characterisation of Xq28 genes prioritises candidate disease genes. Anja Kolb-Kokocinski, Alexander Mehrle, Stephanie Bechtel, …
Pharos : Disease Details - distal Xq28 microduplication syndrome
Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent …
Deletion Xq27.3q28 in female patient with global developmental …
May 1, 2013 · Case presentation: We describe the clinical, molecular and biochemical evaluations of a four year-old female patient with global developmental delay and a hemizygous deletion of …
A susceptibility gene for premature ovarian failure (POF) maps to ...
Jul 28, 2004 · We have analyzed in detail the deletion in this family and we now report the molecular characterization leading to suggestion of a susceptibility gene for POF in Xq28. …
Clinical characterization of int22h1/int22h2-mediated Xq28 …
Mar 14, 2015 · The reciprocal int22h1/int22h2-mediated Xq28 deletion results in extremely skewed XCI patterns and no clinical phenotype in females. It is suggested that this deletion is …
Chromosome Xq28 duplication syndrome - NIH Genetic Testing …
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 …
Clinical impacts of genomic copy number gains at Xq28
Jul 24, 2014 · Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy. Clin Dysmorphol …
Detailed clinical and molecular study of 20 females with Xq …
Jan 1, 2013 · Some degree of ovarian dysfunction is highly likely, especially for terminal deletions extending proximal to Xq27. In conjunction with patient data from the literature, our study …
Deletion Xq27.3q28 in female patient with global developmental …
May 1, 2013 · Chromosome and DNA studies found an abnormal karyotype with a deletion on the X chromosome. Fragile X PCR revealed only one unmethylated FMR1 allele within the normal …
Distal Xq28 microdeletions: Clarification of the spectrum of …
The X-linked creatine transporter deficiency is a considerably more common and a cause of X-linked intellectual disability; however, multi-exon deletions of the creatine transporter are rare. …
Xq28 duplications including MECP2 in five females: Expanding …
Sep 28, 2011 · Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage-sensitive gene, are associated with a distinct clinical phenotype in …