The use of two different MLPA kits in 22q11.2 deletion syndrome
| Autor: | T. van Amelsvoort, John J.M. Engelen, Leonie M. H. Houben, Leopold M. G. Curfs, L. J. M. Evers |
|---|---|
| Přispěvatelé: | RS: CAPHRI School for Public Health and Primary Care, RS: CAPHRI - R2 - Creating Value-Based Health Care, Promovendi ODB, Genetica & Celbiologie, MUMC+: DA Pat Cytologie (9), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, Health Services Research, Complexe Genetica, MUMC+: DA KG Polikliniek (9), RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9) |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male 0301 basic medicine Oncology medicine.medical_specialty Psychosis DNA Copy Number Variations Population Intelligence Article 03 medical and health sciences 0302 clinical medicine 22q11 Deletion Syndrome Borderline intellectual functioning Intellectual Disability Internal medicine Intellectual disability DiGeorge Syndrome Genetics medicine Humans Multiplex Deletion syndrome Multiplex ligation-dependent probe amplification education Genetics (clinical) education.field_of_study 22q11 deletion syndrome Psychopathology business.industry Cognitive deterioration General Medicine Middle Aged medicine.disease MLPA Phenotype 030104 developmental biology Female Reagent Kits Diagnostic Chromosome Deletion business Deletion size Multiplex Polymerase Chain Reaction 030217 neurology & neurosurgery |
| Zdroj: | European Journal of Medical Genetics, 59(4), 183-188. Elsevier |
| ISSN: | 1769-7212 |
| Popis: | 22q11.2 deletion syndrome (22q11DS) is one of the most common recurrent copy-number variant disorder, caused by a microdeletion in chromosome band 22q11.2 and occurring with a population prevalence of 1 in 2000. Until today there has been no evidence that the size of the deletion has an influence on the clinical phenotype. Most studies report that 22q11DS is associated with mild or borderline intellectual disability. There are a limited number of reports on 22q11DS subjects with moderate or severe intellectual disability. In this study we describe 63 adult patients with 22q11DS, including 22q11DS patients functioning at a moderate to severe intellectual disabled level. Deletion size was established with an experimental Multiplex ligation-dependent probe amplification (MLPA) mixture (P324) in addition to the commonly used MLPA kit (P250). We compared deletion size with intellectual functioning and presence of psychotic symptoms during life. The use of the experimental MLPA kit gives extra information on deletion size, only when combined with the common MLPA kit. We were able to detect eleven atypical deletions and in two cases the deletion size was shorter than all other "typical ones". We conclude that the use of the experimental kit P324 gives extra information about the deletion size, but only when used together with the standard P250 kit. We did not found any relation of deletion size with intelligence or presence of psychosis. |
| Databáze: | OpenAIRE |
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