Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome
نویسندگان
چکیده
منابع مشابه
Chromosome 11q13 deletion syndrome
Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome ...
متن کاملImmune Defects in Chromosome 22q11.2 Deletion Syndromes
Chromosome 22q11.2 deletion syndrome (del22q) is one of the most common genetic disorders in humans and results in the triad of cardiac defects, parathyroid hypoplasia, and thymic hypoplasia with variable immune deficiency. Some patients are at increased risk for infection and up to 10% will develop autoimmune disease. The purpose of this study was to further define reduced thymic output and ri...
متن کاملMoebius syndrome . Deletion of chromosome 13 in
A girl aged 21⁄2/ years with Moebius syndrome was found to have a deletion of band q12.2 in chromosome 13 (46,XX,del(13Xq12.2)). This is the second report concerning involvement of chromosome 13q and Moebius syndrome. The observation raises the possibility that a gene responsible for Moebius syndrome is located in this region of chromosome 13. Moebius syndrome (MS) consists of congenital facial...
متن کاملSpecific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency.
Immunoglobulin (Ig) A deficiency has long been recognized in patients with chromosome 18 abnormalities. We present the case of a young girl in whom a chromosome 18p deletion syndrome (46,XX,del[18][p11.1]) was associated not only with IgA deficiency, but also with an inability to make antibody to the unconjugated pneumococcal polysaccharide vaccine, Pneumovax II, indicating a concomitant specif...
متن کاملClinical variability of chromosome 22q11.2 deletion syndrome
22q11.2 deletion syndrome (22q11.2 DS) is a disorder that has multiple symptoms and affects various organs and systems. Despite the great variability of clinical manifestations, common 22q11.2 DS includes congenital heart defect, immunodeficiency, characteristic facial features, palatal defects, developmental and/or learning disabilities, and hypocalcaemia. We present the cases of three patient...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2018
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.38597