Sökning: "22q11 deletion"

Visar resultat 1 - 5 av 10 avhandlingar innehållade orden 22q11 deletion.

1. 1. The 22q11 deletion syndrome.A clinical and epidemiological study

   Författare :Sólveig Oskarsdóttir; Göteborgs universitet; []
   Nyckelord :22q11 deletion; disability; dysmorphology; incidence; phenotype;

   Sammanfattning : Aims: The aims of this study were to 1) assess the incidence and prevalence of the 22q11 deletion syndrome(22q11DS) in a defined population of western Sweden, 2) to evaluate the presenting phenotype and 3)to investigate the profile of cognitive and nervous system-related disabilities and the resulting handicap,taking into account physical, neurological and psychological aspects.Material and Methods: The incidence was studied in children born in the Western Götaland Region,where Göteborg is the main city, during the years 1991-2000. LÄS MER

3. 2. Thymus dysfunction in the 22q11 deletion syndrome

   Författare :Jenny Lingman Framme; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; 22q11.2 deletion syndrome; TREC; thymus;

   Sammanfattning : Introduction: The 22q11.2 deletion syndrome (22q11DS) is associated with heterogeneous clinical findings, including T-cell immunodeficiency resulting from thymus hypoplasia. LÄS MER

4. 3. 22q11 Deletion Syndrome. Neuropsychological and Neuropsychiatric Correlates. A Clinical Study of 100 Cases

   Författare :Lena Niklasson; Göteborgs universitet; []
   Nyckelord :22q11 Deletion Syndrome; Autism Spectrum Disorder; Attention-Deficiit Hyperactivity Disorder; Learning Disabiity; Neuropsychology;

   Sammanfattning : Objectives: Examine the prevalence and type of Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity-Disorder (AD/HD), Learning Disability (LD), behavioural profile, intellectual ability/profile, and executive function in 22q11 Deletion Syndrome (22q11DS) and to study the impact of AD/HD and ASD on these functions. Methods: One hundred individuals (58 female, 42 male; 1-35 years of age) with 22q11DS, confirmed by FISH analysis, were included. LÄS MER

5. 4. Speech and language in patients with an isolated cleft palate and/or 22q11 deletion syndrome

   Författare :Christina Persson; Göteborgs universitet; []
   Nyckelord :isolated cleft palate; 22q11 deletion syndrome; articulation; language; velopharyngeal impairment; intelligibility.;

   Sammanfattning : Aims: To study speech with regard to articulation and perceptual speech symptoms related to velopharyngeal dysfunction, intelligibility and language ability in patients born with a) an isolated cleft palate with or without additional malformations/syndromes, or b) 22q11 deletion syndrome (22q11 DS).Materials and methods: Fifty-three patients (aged 3-10 years) born with an isolated cleft palate and 30 non-cleft children participated in studies I and II, and 65 consecutively referred patients with 22q11 DS confirmed by a FISH-test participated in studies III and IV. LÄS MER

7. 5. Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability

   Författare :Christian Wentzel; Ann-Charlotte Thuresson; Göran Annerén; Anita Rauch; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; intellectual disability; 22q11.2 duplication syndrome; 6q deletion; 6q duplication; 10p deletion; developmental delay; mental retardation; dysmorphic features; Medical Genetics; Medicinsk genetik;

   Sammanfattning : Intellectual disability (ID) affects approximately 1-3% of the population and is defined as having an IQ below 70 as well as a significant limitation in adaptive behavior.The implementation of chromosomal microarrays (CMA) into the field of clinical genetics has revolutionized the ability to find genetic aberrations responsible for different genetic disorders. LÄS MER