22q11 microdeletion syndrome and ultra‐high risk for psychosis: The role of neurological soft signs as an independent marker of vulnerability for psychosis
Sign Up to like & getrecommendations! Published in 2018 at "Early Intervention in Psychiatry"
DOI: 10.1111/eip.12754
Abstract: 22q11 microdeletion syndrome has an increased risk for psychosis, similar to subjects at ultra‐high risk for psychosis. Neurological soft signs are considered an endophenotype of psychotic disorders and a marker of vulnerability to Schizophrenia, consisting… read more here.
Keywords: risk; microdeletion syndrome; risk psychosis; ultra high ... See more keywords
P59 Clinical diversity in 22q11.2 microdeletion syndrome & difficulties in diagnoses using only fluroscence in situ hybridisation (fish)
Sign Up to like & getrecommendations! Published in 2017 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2017-313273.147
Abstract: Background and Aims 22q11 Microdeletion syndrome is the most common microdeletion syndrome and the second most common genetic syndrome, but due to its vast range of clinical features varying in severity it commonly goes undiagnosed.… read more here.
Keywords: microdeletion syndrome; clinical diversity; microdeletion; syndrome ... See more keywords
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14010160
Abstract: Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period. Indications for prenatal… read more here.
Keywords: screening diagnostic; 22q11 microdeletions; prenatal screening; 22q11 microdeletion ... See more keywords