A Novel 22q11.2 Microdeletion in DiGeorge Syndrome
نویسندگان
چکیده
منابع مشابه
Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.
DiGeorge (DGS) and velocardiofacial (VCFS) syndromes are frequently associated with microdeletions within the 22q 11 region. The phenotypic spectrum is broad and microdeletions have been found in asymptomatic adults and children with quite subtle manifestations. The severity of the phenotype does not correlate with the extent of the deletion. The 22ql 1 region contains moderately repetitive seq...
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The patients with DiGeorge syndrome (DGS), caused by deletion containing dozens of genes in chromosome 22, often carry cardiovascular problem and hearing loss associated with chronic otitis media. Inside the deletion region, a transcription factor TBX1 was highly suspected. Furthermore, similar DGS phenotypes were found in the Tbx1 heterozygous knockout mice. Using ENU-induced mutagenesis and G...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1999
ISSN: 0002-9297
DOI: 10.1086/302235