Results 31 to 40 of about 241,233 (172)

Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional study

Annals of Pediatric Cardiology
Introduction: 22q11.2 deletion is associated with conotruncal anomalies and immunological aberrations. Given the common embryonic origin of conotruncus and thymus, conotruncal anomalies may be associated with immunological aberrations irrespective of ...
Souvik Das, Arun Kumar Baranwal, Amit Rawat, Ashwini Nair, Sanjeev Hanumantacharya Naganur, Anupriya Kaur, Anand Kumar Mishra, Ankur Jindal, Anit Kaur   +8 more
doaj   +1 more source

Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome

Pediatric Reports, 2010
We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS) was diagnosed.
Gloria Colarusso, Eleonora Gambineri, Elisabetta Lapi, Tommaso Casini, Fabio Tucci, Francesca Lippi, Chiara Azzari   +6 more
doaj   +1 more source

Chromosome 22q11.2 deletion causes PERK-dependent vulnerability in dopaminergic neurons

EBioMedicine, 2021
Background: The chromosome 22q11.2 deletion is an extremely high risk genetic factor for various neuropsychiatric disorders; however, the 22q11.2 deletion-related brain pathology in humans at the cellular and molecular levels remains unclear. Methods: We
Yuko Arioka, Emiko Shishido, Itaru Kushima, Toshiaki Suzuki, Ryo Saito, Atsu Aiba, Daisuke Mori, Norio Ozaki   +7 more
doaj   +1 more source

Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples. [PDF]

PLoS ONE, 2018
Non-invasive prenatal testing (NIPT) for aneuploidy using cell-free DNA in maternal plasma has been widely adopted. Recently, NIPT coverage has expanded to detect subchromosomal abnormalities including the 22q11.2 deletion. Validation of a SNP-based NIPT
Harini Ravi, Gabriel McNeill, Shruti Goel, Steven D Meltzer, Nathan Hunkapiller, Allison Ryan, Brynn Levy, Zachary P Demko   +7 more
doaj   +1 more source

Congenital cytomegalovirus infection in a preterm infant with 22q11.2 deletion syndrome and immunological abnormalities [PDF]

The 22q11.2 deletion syndrome has many complications; one of them is immunodeficiency. However, the time of onset and the degree of immunodeficiency can vary. We report a case of a preterm infant with congenital cytomegalovirus infection complicated with
Kakiuchi, Satsuki, Kato, Motohiro, Mukai, Takeo, Takahashi, Naoto, Doi, Hideki, Shitara, Yoshihiko, Toyofuku, Etsushi, Kashima, Kohei   +7 more
core   +1 more source

Heterotopia in Individuals with 22q11.2 Deletion Syndrome [PDF]

, 2021
BACKGROUND AND PURPOSE: MR imaging studies and neuropathologic findings in individuals with 22q11.2 deletion syndrome show anomalous early brain development. We aimed to retrospectively evaluate cerebral abnormalities, focusing on gray matter heterotopia,
Kushan, L., Bearden, CE, Rosenow, F., Hattingen, E, Hattingen, E., Breuer, S., Lin, A, Breuer, S, Jurcoane, A, Rüber, T., Herrmann, E, Rüber, T, Lin, A., Rosenow, F, Vajdi, A., Neuhaus, E, Ecker, C, Jurcoane, A., Neuhaus, E., Polomac, N., Steidl, E., Kushan, L, Steidl, E, Ecker, C., Bearden, C.E., Polomac, N, Herrmann, E., Vajdi, A   +27 more
core   +1 more source

Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome

Case Reports in Obstetrics and Gynecology, 2016
Chromosome 22q11.2 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a wide spectrum of phenotypic features. It is known to be associated with severe macrothrombocytopenia. Postpartum hemorrhage is a leading cause
Sarah L. Pachtman, Kathy Deng, Deepak Nanda   +2 more
doaj   +1 more source

Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome) [PDF]

, 2005
Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present
Marino, Bonnie, Capolino, Rossella, Digilio, Maria Cristina, Dallapiccola, B.   +3 more
core  

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases

Molecular Cytogenetics, 2008
Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions.
Kabra Madhulika, Jain Manish, Halder Ashutosh, Gupta Neerja   +3 more
doaj   +1 more source