Rozas, M. Fernanda Benavides, Felipe León, Luis Repetto, Gabriela M.
Published in
Orphanet Journal of Rare Diseases
BackgroundChromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies involve the palate in 80% of patients, and the heart in 50–60% of them. The cause of the phenotypic variability is unknown. Patient...
Lutz, Olivia Lizano, Paulo Mothi, Suraj Sarvode Joseph, Adam Tandon, Neeraj Ormston, Leighanne Hooper, Stephen Keshavan, Matcheri Shashi, Vandana
Published in
Psychiatry research. Neuroimaging
22q11.2 Deletion Syndrome (22qDS) is a neurogenetic disorder resulting in cognitive deficits and hypogyrification, but relationships between these processes have not been established. 22qDS youth and healthy controls (HC) were administered a battery of cognitive tasks. Gyrification measurements were extracted from structural T1 scans using Freesurf...
Mosheva, Mariela; Pouillard, Virginie; Fishman, Yael; Dubourg, Lydia; Sofrin-Frumer, Dafna; Serur, Yaffa; Weizman, Abraham; Eliez, Stephan; Gothelf, Doron; Schneider, Maude; 107202;
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22q11.2 deletion syndrome (22q11.2DS) is the most common known microdeletion in humans occurring in 1 out of 2000-4000 live births, with increasing numbers of individuals with the microdeletion living into adulthood. The aim of the study was to explore the education and employment trajectories of individuals with 22q11.2DS from childhood to adultho...
Funato, Noriko Yanagisawa, Hiromi
Published in
Archives of oral biology
We examined the function of the T-box transcription factor 1 (TBX1) in palatogenesis. Tbx1-knockout mice were histologically examined by hematoxylin and eosin staining. Next, secondary palatal shelves dissected from wild type or Tbx1-knockout mice embryos at embryonic day 13.5 were investigated with microarray analysis, gene ontology analysis, and ...
Mosheva, Mariela Pouillard, Virginie Fishman, Yael Dubourg, Lydia Sofrin-Frumer, Dafna Serur, Yaffa Weizman, Abraham Eliez, Stephan Gothelf, Doron Schneider, Maude
...
Published in
European Child & Adolescent Psychiatry
22q11.2 deletion syndrome (22q11.2DS) is the most common known microdeletion in humans occurring in 1 out of 2000–4000 live births, with increasing numbers of individuals with the microdeletion living into adulthood. The aim of the study was to explore the education and employment trajectories of individuals with 22q11.2DS from childhood to adultho...
Moberg, Paul J. Richman, Mara J. Roalf, David R. Morse, Chelsea L. Graefe, Anna C. Brennan, Laura Vickers, Kayci Tsering, Wangchen Kamath, Vidyulata Turetsky, Bruce I.
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Published in
Behavior Genetics
The 22q11.2 deletion syndrome (22q11.2DS) is a known risk factor for development of schizophrenia and is characterized by a complex neuropsychological profile. To date, a quantitative meta-analysis examining cognitive functioning in 22q11.2DS has not been conducted. A systematic review of cross-sectional studies comparing neuropsychological perform...
Filip, Charles Impieri, Davide Aagenæs, Ingegerd Breugem, Corstiaan Høgevold, Hans Erik Særvold, Tone Aukner, Ragnhild Lima, Kari Tønseth, Kim Abrahamsen, Tore G
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Published in
Journal of plastic, reconstructive & aesthetic surgery : JPRAS
To find out if subjects with 22q11.2 deletion syndrome (DS) have a different velopharyngeal anatomy which could cause velopharyngeal insufficiency (VPI). A prospective study of 16 subjects >16 years of age with 22q11.2 DS, without overt cleft palate and without previous VPI surgery, and 48 healthy controls >18 years of age were included in the stud...
Mekori-Domachevsky, Ehud Guri, Yael Yi, James Weisman, Omri Calkins, Monica E Tang, Sunny X Gross, Raz McDonald-McGinn, Donna M Emanuel, Beverly S Zackai, Elaine H
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Published in
Schizophrenia research
About one third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop schizophrenia. Notably, a full-blown psychotic disorder is usually preceded by subthreshold symptoms. Therefore, it is important to identify early signs of psychosis in this population, a task that is complicated by the intellectual disabilities typically seen in 22q1...
Stevens, Toer van der Werff Ten Bosch, Jutte De Rademaeker, Marjan Van Den Bogaert, Ann van den Akker, Machiel
Published in
Clinical case reports
22q11.2DS is a significant health problem because of its fairly high incidence. It is relevant to be vigilant regarding the diagnosis of cancer amongst 22q11.2 patients as there might be an increased risk, especially amongst patients with the 22q11.2 distal deletion syndrome.
Berhanu, David Mattiaccio, Leah M Antshel, Kevin M Fremont, Wanda Middleton, Frank A Kates, Wendy R
Published in
Psychiatry research
Dysfunction of cortical circuitry involving prefrontal cortex, cingulate gyrus and mesial temporal lobe has been implicated in the pathophysiology of psychotic symptoms. 22q11.2 deletion syndrome (22q11DS) is a neurogenetic disorder that comports a 25-fold increased risk of developing psychosis. Morphological changes in the neuroanatomy of this syn...
