Sökning: "22q11.2 deletion syndrome"

Hittade 5 avhandlingar innehållade orden 22q11.2 deletion syndrome.

1. 1. 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

3. 2. 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

4. 3. Genetic studies of neurodevelopmental disorders

   Författare :Josephine Wincent; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Neurodevelopmental disorders (NDDs) constitute a heterogeneous group of disorders that adversely impacts a child’s behavioural and learning processes. Developmental delay (DD) and mental retardation are included among the NDDs and are frequently associated with a wide range of accompanying disabilities such as multiple congenital anomalies and dysmorphic features. LÄS MER

5. 4. Genetic studies in early embryos with emphasis on preimplantation genetic diagnosis

   Författare :Erik Iwarsson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :chromosomal abnormality 1 embryo fluorescent in situ hybridisation FISH 1 in vitro fertilisation IVF 1 preimplantation genetic diagnosis PGD ;

   Sammanfattning : It has been estimated that as much as 70-80% of all human conceptions do not develop to term. A majority of clinically recognisable pregnancies, which are miscarried, contain chromosome abnormalities. However, data from very early embryo development are difficult to obtain. LÄS MER

7. 5. Characterization of candidate disease genes from human chromosomes 11g13 and 22q

   Författare :Darek Kedra; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Fugu rubripes; 11q13 region; MEN1; menin; GCK; DMPKL; meningioma; clathrin; adaptin; NIPSNAP; synaptogyrin; TOM1; SMARCB1;

   Sammanfattning : Two regions of the human genome, 11q13 and 22q, have been shown to harbor numerous disease-related genes, among them tumor suppressor genes (TSGs). The aim of this project was to construct transcription maps within these chromosomal segments, and thus provide a basis for further analysis of some of the genes for their involvement in disease-related processes. LÄS MER