Early-onset psychosis in an adolescent with DiGeorge syndrome: A case report
South African Journal of Psychiatry, 2018 DiGeorge syndrome (DGS) was first described in 1829 by Dr Angelo DiGeorge. DGS is a cluster of symptoms because of a defect in the development of the pharyngeal pouch.
Keneilwe Molebatsi, Anthony O. Olashore
doaj +1 more source
Inactivation of TGFbeta signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome [PDF]
, 2005 Specific inactivation of TGFbeta signaling in neural crest stem cells (NCSCs) results in cardiovascular defects and thymic, parathyroid, and craniofacial anomalies.
Lang, KS +15 more
core +1 more source
Cardiac aspects of DiGeorge syndrome: a report of two cases with molecular analysis
Journal of Health Sciences, 2014 DiGeorge syndrome (DGS) which is also known as velocardiofacial syndrome is caused by a submicroscopic chromosome deletion of band 22q11. It is associated with a disturbed development of the pharyngeal arches.
Senka Mesihović Dinarević, Emina Vukas
doaj +1 more source
Live vaccine in children with DiGeorge/22q11.2 Deletion Syndrome
, 2019 Copyright © Ordem dos Médicos 2019Children with DiGeorge syndrome/chromosome 22q11.2 deletion syndrome might have a variable degree of immunodeficiency, which may limit the use of live vaccines.
Martins, Andreia Teixeira +5 more
core +1 more source
The Turkish Journal of Pediatrics, 2000 CATCH 22 is a medical acronym for cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia, and a variable deletion on chromosome 22q11.
M Alikaşifoğlu +5 more
doaj
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families [PDF]
, 2010 Background: the 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level.
Emma-Jane Taylor +41 more
core +1 more source
Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression
Case Reports in Psychiatry, 2016 Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome ...
James J. Bresnahan +3 more
doaj +1 more source
Post-vaccination response in patients with diGeorge syndrome
, 2012 DiGeorge syndrome is an autosomal dominantly inherited disease with an incidence of 1: 4 000. Its distinctive phenotypic manifestations are collectively referred to as CATCH 22. Its holders can cause serious clinical problems. One of the primary syndrome
Petříčková, Michaela
core
Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.
, 1993 In a series of ten patients affected by DiGeorge syndrome, we screened, by high resolution banding and fluorescent in situ hybridization of a cosmid probe, for microdeletions associated with this syndrome.
Halford, Stephanie +7 more
core +1 more source
A young man with DiGeorge syndrome and tachycardia. [PDF]
Neth Heart J, 2023 Bradt N +3 more
europepmc +2 more sources