Search for dissertations about: "dysmorphic features"

Showing result 1 - 5 of 8 swedish dissertations containing the words dysmorphic features.

2. 1. Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability

   Author : Christian Wentzel; Ann-Charlotte Thuresson; Göran Annerén; Anita Rauch; Uppsala universitet; []
   Keywords : 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;

   Abstract : 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. READ MORE

4. 2. Genetic studies of neurodevelopmental disorders

   Author : Josephine Wincent; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : 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. READ MORE

5. 3. Prader-Willi syndrome : diagnosis and effects of growth hormone treatment

   Author : Ann Christin Lindgren; Karolinska Institutet; Karolinska Institutet; []
   Keywords : DNA methylation test; genomic imprinting; glucose intolerance; growth hormone; Prader Willi syndrome; respiratory function;

   Abstract : Prader-Willi syndrome (PWS) is a rare neurogenetic disorder characterised by hypotonia (especially pronounced in the perinatal period) with "failure to thrive", hypogonadism, hypoventilation, dysmorphic features, final short stature and mental retardation. From the age of 2 years hyperphagia develops leading to obesity if the caloric intake is not limited. READ MORE

6. 4. Cryptic chromosome abnormalities in idiopathic mental retardation

   Author : Britt-Marie Anderlid; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Mental retardation is a common disorder, affecting 1-3% of the population. In spite of improved diagnostic tools, the etiology can still not be established in half of the cases. Several lines of evidence indicate a genetic origin in a significant number of individuals with idiopathic mental retardation. READ MORE

7. 5. Autism spectrum disorders : genetic and neurodevelopmental aspects in children with early diagnosis

   Author : Mats Anders Eriksson; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : The overall aim of the thesis was to describe the broad variability in neurodevelopmental profiles in preschool children with autism spectrum disorders (ASD) and to relate these findings to co-existing genetic conditions and other medical disorders. Children in the study were assessed with regard to neurodevelopmental characteristics, before and after intervention, and were recommended genetic testing including chromosomal micro-array. READ MORE