Dopaminergic neurons 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 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 کاملChromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents bearing their own affected children. The manifestations of this syndrome cross all medical specialties, and care of the children and adults can be complex. Many patients have a m...
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...
متن کاملSpecific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome.
Children with chromosome 22q11.2 deletion syndrome commonly are found to have morphological brain changes, cognitive impairments, and elevated rates of psychopathology. One of the most commonly and consistently reported brain changes is reduced cerebellar volume. Here, we demonstrate that, in addition to the global cerebellum reductions previously reported, volumetric reductions of the anterior...
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ژورنال
عنوان ژورنال: EBioMedicine
سال: 2021
ISSN: 2352-3964
DOI: 10.1016/j.ebiom.2020.103180