Sökning: "22q11 syndrome"

Visar resultat 1 - 5 av 11 avhandlingar innehållade orden 22q11 syndrome.

1. 1. Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome

   Författare :Kiran K. Mantripragada; Jan P. Dumanski; Peter Lichter; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; array-CGH; neurofibromatoses; neurofibromatosis type 1; neurofibromatosis type 2; schwannomatosis; DiGeorge syndrome; 22q11 syndrome; chromosome 22; genomic microarrays; DNA copy number; Genetik; Clinical genetics; Klinisk genetik;

   Sammanfattning : Microarray-based comparative genomic hybridization (array-CGH) has emerged as a versatile platform with a wide range of applications in molecular genetics. This thesis focuses on the development of array-CGH with a specific aim to approach disease-related questions through improved strategies in array construction and enhanced resolution of analysis. 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. 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

5. 4. 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

7. 5. 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