22q11.2 deletion syndrome
How might stress contribute to increased risk for schizophrenia in children with chromosome 22q11.2 deletion syndrome?
... 22q11.2 deletion syndrome ...three-megabase deletion on the q11 band of chromosome 22 (Driscoll et ...the deletion compared to the general population (Murphy 2002; Bassett et ...
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CHARGE (Coloboma, Heart Defect, Atresia Choanae, Retarded Growth and Development, Genital Hypoplasia, Ear Anomalies/Deafness) Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Nonimmunologic Phenotypic Features
... anomalies/deafness) syndrome and chromo- some 22q11.2 deletion syndrome are known to have significant clinical overlap including cardiac anomalies, ear abnormalities, hearing loss, developmental ...
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22q11 2 deletion syndrome: Lived parental experiences
... “You don’t know until you get there”: The positive and negative ‘lived’ experience of parenting an adult child with 22q11.2 deletion syndrome.[r] ...
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Online Social Skills Group Training for Adolescents and Young Adults with 22q11 2 Deletion Syndrome (22q11 2DS)
... [24] Schneider, M., Debbane, M., Bassett, A.S., Chow, E.W., Fung, W.L., van den Bree, M., Owen, M., Murphy, K.C., Niarchou, M., Kates, W.R., Antshel, K.M., Fremont, W., McDonald-McGinn, D.M., Gur, R.E., Zackai, E.H., ...
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Seizures as the first manifestation of chromosome 22q11 2 deletion syndrome in a 40 year old man: a case report
... Some patients present with asymptomatic hypocalcemia and inappropriately low parathyroid hormone levels that leads to fluorescence in situ hybridization and the diagno- sis of chromosome 22q11.2 deletion ...
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Developmental course of conversational behaviour of children with 22q11.2 deletion syndrome and Williams syndrome
... This study investigated three conversational subskills in children with 22q11.2 deletion syndrome (22q11.2DS, n = 8, ages 7–13) and Williams syndrome (WS, n = 8, ages 6– 12). We re-evaluated these ...
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Anatomic Malformations of the Middle and Inner Ear in 22q11 2 Deletion Syndrome: Case Series and Literature Review
... Of approximately 300 patients followed at the University Medical Center Utrecht and the 1300 patients from Children’s Hospital of Philadelphia, 26 patients (52 ears), 14 males and 12 females, un- derwent radiologic ...
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Incidental Radiologic Findings in the 22q11 2 Deletion Syndrome
... prominence, 2) white matter hyperintensities and a 12-mm pineal cyst, 3) multiple white matter hyperintensities and a nonspecific hypointensity in the left thalamus, 4) CSP and ab- sent left ICA flow, and 5) ...
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Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome
... To assess if the temperament subscales at baseline pre- dicted the future emergence of a psychotic disorder in 22q11.2DS, we conducted a logistic regression with the presence/absence of a psychotic disorder at follow-up ...
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Working Memory Impairments in Chromosome 22q11.2 Deletion Syndrome: The Roles of Anxiety and Stress Physiology
... deficits. Consistent exposure to stressful stimuli leads to increased blood pressure and heart rate will later lead to heart disease, hypertension, and a weakened immune system, among other outcomes (Baum & ...
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22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis
... 22q11.2 deletion syndrome (22q11DS) is caused by an autosomal dominant microdeletion of chromosome 22 at the long arm (q) ...the deletion, and is associated with an increased risk of psychiatric ...
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Common and specific impairments in attention functioning in girls with chromosome 22q11.2 deletion, fragile X or Turner syndromes
... 22q11.2 deletion syndrome (22q11.2DS), fragile X syndrome (FXS), and Turner syndrome (TS) are complex and variable developmental syndromes caused by different genetic abnormalities; yet, they ...
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PubMedCentral-PMC5852670.pdf
... 22q11.2 deletion syndrome, also called velocardiofacial syndrome or DiGeorge syndrome, is caused by a microdeletion on the long arm of chromosome 22 at band ...impairment. 2 Anxiety, ...
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Two patients with chromosome 22q11 2 deletion presenting with childhood obesity and hyperphagia
... 22q11.2 deletion syndrome is a clinically heterogeneous condition of intellectual disability, parathyroid and thyroid hypoplasia, palatal abnormalities, cardiac malformations and psychiatric ...Prader-Willi ...
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Neural correlates of reward processing in adults with 22q11 deletion syndrome
... 60. Schneider M, Debbané M, Bassett AS, Chow EWC, Fung WLA, van den Bree MBM, Owen M, Murphy KC, Niarchou M, Kates WR, Antshel KM, Fremont W, McDonald-McGinn DM, Gur RE, Zackai EH, Vorstman J, Duijff SN, Klaassen PWJ, ...
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Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era
... Abstract: Schizophrenia is a complex neuropsychiatric disease with documented clinical and genetic heterogeneity, and evidence for neurodevelopmental origins. Driven by new genetic technologies and advances in molecular ...
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White matter microstructure in 22q11 deletion syndrome: a pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents
... DNA was extracted from blood samples collected on all subjects. Fluorescence in situ hybridisation (FISH) (Oncor Inc, Gaithersburg, MD, USA) confirmed 3 Mb 22q11.2 deletion in 22q11DS cases while chromosome ...
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22q11 deletion syndrome: current perspective
... Fluorescence in situ hybridization (FISH) is the current method of choice for detecting 22q11.2 microdeletions. FISH is a highly accurate and reliable test that can also be used for prenatal diagnosis. However, it is ...
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Olfactory Disorder in Children With 22q11 Deletion Syndrome
... fects. Parents waited immediately outside the testing room for their children and were available to the chil- dren as needed. For all administrations, the order of the booklets (1-4) was maintained. In some cases, UPSIT ...
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The developmental cognitive trajectory of the 22Q11 2 deletion
... 22q11.2 deletion (22qDS) is a microdeletion syndrome which commonly leads to an uneven profile of Learning difficulties (LD), with superior verbal compared to nonverbal intellectual and memory functions in ...
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