Investigation ofTBR1Hemizygosity: Four Individuals with 2q24 Microdeletions
نویسندگان
چکیده
منابع مشابه
Investigation of AZF microdeletions in patients with Klinefelter syndrome.
We investigated azoospermia region microdeletions in male infertility patients with Klinefelter syndrome (KFS), as well as the association between azoospermia symptoms in patients with KFS and Y chromosome microdeletion polymorphisms. A total of 111 cases with male infertility confirmed to have KFS (47, XXY) and 94 fertile men were included in this study. Peripheral blood was drawn and DNA was ...
متن کاملEpilepsy and deletions at chromosome 2q24.
Chromosomal abnormalities are an important cause of epilepsy [Singh et al., 2002], which might be the presenting symptom in the context of a specific syndrome. A recent article by Langer et al. [2006] reports on a translocation t(2;15) with deletion at 2q24-q31 in a girl with epilepsy, dysmorphic features, and severe developmental delay. As this case adds to the growing list of severe epilepsy ...
متن کاملLAMP2 microdeletions in patients with Danon disease.
BACKGROUND Danon disease is an X-linked dominant disorder characterized by the clinical triad of hypertrophic cardiomyopathy, skeletal myopathy, and variable mental retardation. Pathologically, autophagic vacuoles are noted in both skeletal and cardiac muscle. It exhibits an X-linked dominant mode of inheritance, and male carriers are severely affected, whereas female carriers develop milder an...
متن کاملInvestigation of joint hypermobility in individuals with hyperbilirubinemia.
OBJECTIVE Benign joint hypermobility syndrome refers to hypermobile individuals with musculoskeletal symptoms in the absence of any systemic rheumatic disease; its prevalence is approximately 0.5%. In animal studies, bilirubin has been shown to reduce fibrosis induced by bleomycin. It has been suggested that bilirubin leads to hypermobility that affects the structure or function of collagen. In...
متن کاملInvestigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population.
BACKGROUND Intellectual Disabilities (ID), defined as a state of developmental deficit, result in significant limitation of intellect and poor adaptation behavior. A number of genetic factors can result in ID, such as chromosomal abnormalities, copy number variation, and single gene defect. Karyotyping is the routine method for detecting chromosomal abnormalities in patients with ID. More recen...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2012
ISSN: 1661-8777,1661-8769
DOI: 10.1159/000342008