Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 17 of 17 for “"Deletion Syndrome"”.
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Self Injury in 1p36 deletion syndrome
Studies of 1p36 deletion syndrome have focused on physical characteristics with limited exploration of the behavioural phenotype. When behavioural features have been reported, self-injury and aggression are noted. This study aimed to describe these behaviours and investigate aetiology. The …
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Deficits in eye movement control in children with 22q11.2 deletion syndrome.
Background: The 22q11.2 deletion syndrome (22q11.2 DS) causes a wide variety of symptoms, but the central nervous system (CNS) dysfunction is the one most likely to affect the day-to-day life of those affected by this genetic disorder. In addition to affecting the educational needs of children with …
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Executive Dysfunction is Predictive of Clinical Symptomatology in 22q11.2 Deletion Syndrome
… adulthood, 25%- 30% of individuals with 22q11.2 deletion syndrome (22qDS) develop a psychotic disorder, often schizophrenia, and it is not understood why. Given the known genetic etiology of this disorder and the greatly elevated risk for development of schizophrenia, this group offers the …
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An investigation of sociability: delineating a behavioural and social phenotype for Monosomy 1p36 Deletion Syndrome
There is a substantial body of research indicating that compromised social functioning for individual with intellectual disabilities can have far reaching implications for quality of life, community participation and well being. As the implications of such findings are so important for people with …
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An analysis of the phenotypic features of chromosomes 22q11.1 deletion syndrome at Red Cross War Memorial Children's Hospital
Chromosome 22q11.2 deletion syndrome (22qDS) is an inherited autosomal dominant disorder. It is the second most commonly occurring syndrome, Trisomy 21 being the most common. It is the most common microdeletion syndrome. The clinical range of features with which affected individuals present is very …
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Targeting troubled translation : investigating novel therapeutic targets in mouse models of fragile X and 16p1 1.2 deletion syndrome
… we show that a mouse model of 16p1 1.2 microdeletion disorder, a polygenic disorder known to confer risk for ASD and ID in humans, shares common features of synaptic dysfunction downstream of mGlu₅ with the Fmr KO mouse. Chronic administration of pharmaceutical agents previously shown to …
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Theory of mind in youth and emerging adults with chromosome 22q11.2 deletion syndrome, with and without comorbid mood disorder
… common in individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS). Disruptions in social functioning are a common feature of mood disorders, including social withdrawal and loss of interest in activities that the individual typically experiences as pleasurable (anhedonia). Studies of …
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Development and Validation of Quantitative PCR Assays for DNA-Based Newborn Screening of 22q11.2 Deletion Syndrome, Spinal Muscular Atrophy, Severe Combined Immunodeficiency and Congenital Cytomegalovirus Infection
… include DNA-based targets. Four rare disorders; deletion 22q11.2 syndrome and Spinal Muscular Atrophy (SMA), Severe Combined Immunodeficiency (SCID) and Congenital Cytomegalovirus (CMV), are potential candidates for inclusion to the newborn screening panel within the next few years. The major …
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A literature review into Parents' experiences of raising a child with a disability, and research exploring mothers' experiences of receiving a diagnosis of Monosomy 1P36 deletion syndrome for their child
… of receiving a diagnosis of Monosomy 1p36 Deletion Syndrome for their child. A meta-synthesis of six papers meeting inclusion and quality criteria is presented within this review. Overarching themes derived from the papers included two risk factors: Experiences and Challenges; and two …
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Developmental origins of cortical circuit dysfunction in a 22q11 deletion mouse model
… and autism, intellectual disability. The 22q11.2 deletion syndrome (22q11DS) is a major genetic risk factor for psychiatric illness and provides an optimal genetic model disease to explore how gene dosage imbalance impacts cortical circuit development. Study 1 examined the developmental origin of …
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Obstetrician and Gynecologist Utilization of The Nipt Expanded Testing Option
… screen for additional trisomies and select microdeletion syndromes, such as 22q11.2 deletion syndrome and 5 p- syndrome, became clinically available. Due to this rapidly evolving prenatal screening technology, clinicians must make a conscious effort to keep abreast of the current options; …
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Analysis and characterisation of the mouse Hic2 gene
… homolog HIC2, Hic2 could be involved in some syndromes. Patients with a 22q11 deletion have disrupted brain development which may involve abnormal neural crest cell migration, (Van Amelsvoort et al., 2001). It is now recognized that the 22q11.2 deletion syndrome encompasses the phenotypes …
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Uncovering the molecular pathways of MBD5 in neurodevelopmental disorders
… We have recently identified a novel ND, 2q23.1 deletion syndrome. The phenotype includes severe ID, significantly delayed speech, behavioral problems, seizures and short stature. This syndrome shares characteristics in common with other genetic syndromes, including Smith-Magenis (SMS, RAI1), …
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Generation and Characterization of Human Blood-Brain Barrier Models for Investigating Neuropsychiatric Disorders and Tumor Metastasis
… BBB formed by BMECs is compromised in 22q11.2 deletion syndrome (also called DiGeorge syndrome), which is one of the validated genetic risk factors for schizophrenia, a 2D iBBB (induced BBB) on a Transwell filter was generated from human microvascular endothelial cells (HBMECs) derived from the …
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Genomic Designation: New kinds of people at the intersection of genetics, medicine and social action
… like the XXX, Edwards, Fragile X and 22q11.2 Deletion Syndromes have been discovered, delineated and diagnosed strictly according to abnormalities in the genome, even in the absence of phenotypic coherence - a practice which I call `genomic designation'. This dissertation uses comparative …
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Caracterización clínica de pacientes pediátricos con síndrome de deleción 22q11 atendidos en Hospital de Bogotá, durante el periodo de 2010 a 2020
El síndrome de deleción 22q11 (22q11DS) es el segundo síndrome genético más común y la segunda causa de cardiopatía congénita en la infancia (1). El 90-95% de los casos se deben a microdeleciones de novo, con un riesgo de recurrencia de ∼1%. El 22q11DS afecta múltiples sistemas que incluyen el …