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
DiGeorge Syndrome Associated with Azoospermia: First case in the literature
Urology Research and Practice, 2019 DiGeorge syndrome (DGS) is one of the most frequently seen chromosomal abnormalities. The major genetic cause of DGS is a microdeletion on chromosome 22q11.2. Majority of the cases are diagnosed during their childhood.
Ayşegül Özcan, Yavuz Şahin
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 496-501, February 2026.ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips +8 more
wiley +1 more source
Failure of immunologic reconstitution in a patient with the DiGeorge syndrome after fetal thymus transplantation [PDF]
, 1979 Transplantation of two fetal thymuses failed to reconstitute the immune function in a patient with the DiGeorge syndrome. Serum thymic hormones (facteur thymique serique and thymopoietin), which had been nondetectable, became normal after thymus ...
Smithwick, Elizabeth +6 more
core +1 more source
Microbial metabolites in tumor epigenetic regulation
iMeta, Volume 5, Issue 1, February 2026.The gut microbiome modulates tumor epigenetic regulation through bioactive metabolites derived from dietary substrates. Microbiota‐produced SCFAs, secondary BAs, one‐carbon metabolites, and tryptophan‐derived ligands regulate histone acetylation, DNA methylation, and chromatin remodeling via HDAC, DNMT, AhR, and metabolic cofactor‐dependent pathways ...
Wangzheqi Zhang +31 more
wiley +1 more source
Prenatal Diagnosis Of Catch22 Syndrome
Gynecology Obstetrics & Reproductive Medicine, 2010 Deletions involving the long arm of chromosome 22 (22q11) are involved in various congenital heart diseases and congenital anomalies. In most cases, patients also have the features of DiGeorge Syndrome (DGS), Velocardiofacial Syndrome (VCFS), Shprintzen ...
Rana Karayalçın +5 more
doaj
Immunodeficiency in children with dysmorphic disorders
Pediatria i Medycyna Rodzinna, 2015 Ataxia telangiectasia, Nijmegen breakage syndrome and DiGeorge syndrome are congenital disorders belonging to the category of primary immunodeficiencies.
Marta Ogrodowczyk +3 more
doaj +1 more source
Peripheral Blood Morphology as a Clue to 22q11.2 Deletion Syndrome
eJHaem, Volume 7, Issue 2, April 2026.
Jochen Pfeifer +4 more
wiley +1 more source
A patient with DiGeorge syndrome with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced seizure and epilepsy [PDF]
, 2010 DiGeorge syndrome – a component of the 22q11 deletion syndrome – causes a disturbance in cervical neural crest migration that results in parathyroid hypoplasia. Patients can develop hypocalcemia-induced seizures.
Mutsuko Yasuda +17 more
core +1 more source
Dermatological clues to the diagnosis of atypical complete DiGeorge syndrome [PDF]
, 2016 Atypical complete DiGeorge syndrome (DGS) is an extremely rare congenital disease characterized by an eczematous dermatitis, lymphadenopathy, and an oligoclonal T-cell proliferation.
Fort, Prem +7 more
core +1 more source