Matches in SemOpenAlex for { <https://semopenalex.org/work/W2167379751> ?p ?o ?g. }
Showing items 1 to 56 of
56
with 100 items per page.
- W2167379751 endingPage "A16" @default.
- W2167379751 startingPage "A15.3" @default.
- W2167379751 abstract "Patient NM was referred to the Geneticists following an ophthalmology appointment where dysmorphic features were noted. Patient NM was born at 40 weeks gestation following a normal pregnancy weighing 3220 g (25th centile). His first day check was unremarkable. There is no consanguinity and his female sibling is fit and well. There is a family history of squint. On examination, he was documented as having the following dysmorphic features: low set ears, hypertelorism, down slanting palpable fissures, broad forehead, short neck, broad chest with wide spaced nipples, foetal fingertip pads and undescended testes. On auscultation of his chest, patient NM had a pan-systolic murmur but no other stigmata of cardiac disease. An echo showed a tiny low muscular ventricular septal defect which was of no clinical concern. Developmental examination at 18 months revealed a globally delayed child. Patient NM was unable to walk but had been pulling to stand since 15 months. He did not have any language nor use gestures. He had only recently progressed to textured foods. There was no concern with hearing. He continued to be reviewed by the ophthalmologists for astigmatism, hypermetropia and an alternating divergent squint and he wears a pair of prescription glasses. Genetic testing of patient NM included a microarray which revealed a 3p duplication including the RAF1 gene and a diagnosis of Noonan Syndrome was made. There is a much higher incidence of hypertrophic cardiomyopathy in patients with RAF1 mutations and therefore this investigation not only confirmed the clinical suspicion but will also determine future monitoring. An array is a relatively new high resolution test for looking at all 46 chromosomes simultaneously and is slowing replacing the traditional karyotype. It looks for added chromosomes (duplications) or missing chromosomes (deletions) and hence specific genes that are duplicated or deleted can be identified. As in this case, it can help predict phenotype and may prevent further unnecessary investigations. However, arrays may pick up harmless changes that are common in the general population (copy number variants) which may make interpretation difficult. It is also a more expensive test and takes longer to yield a result." @default.
- W2167379751 created "2016-06-24" @default.
- W2167379751 creator A5024618722 @default.
- W2167379751 creator A5089405888 @default.
- W2167379751 date "2012-05-01" @default.
- W2167379751 modified "2023-09-27" @default.
- W2167379751 title "Using microarray to diagnose Noonan Syndrome and predict phenotype" @default.
- W2167379751 doi "https://doi.org/10.1136/archdischild-2012-301885.38" @default.
- W2167379751 hasPublicationYear "2012" @default.
- W2167379751 type Work @default.
- W2167379751 sameAs 2167379751 @default.
- W2167379751 citedByCount "0" @default.
- W2167379751 crossrefType "journal-article" @default.
- W2167379751 hasAuthorship W2167379751A5024618722 @default.
- W2167379751 hasAuthorship W2167379751A5089405888 @default.
- W2167379751 hasConcept C105702510 @default.
- W2167379751 hasConcept C126322002 @default.
- W2167379751 hasConcept C187212893 @default.
- W2167379751 hasConcept C2776149932 @default.
- W2167379751 hasConcept C2777871287 @default.
- W2167379751 hasConcept C2779286207 @default.
- W2167379751 hasConcept C2779683239 @default.
- W2167379751 hasConcept C2781179581 @default.
- W2167379751 hasConcept C527108885 @default.
- W2167379751 hasConcept C71924100 @default.
- W2167379751 hasConceptScore W2167379751C105702510 @default.
- W2167379751 hasConceptScore W2167379751C126322002 @default.
- W2167379751 hasConceptScore W2167379751C187212893 @default.
- W2167379751 hasConceptScore W2167379751C2776149932 @default.
- W2167379751 hasConceptScore W2167379751C2777871287 @default.
- W2167379751 hasConceptScore W2167379751C2779286207 @default.
- W2167379751 hasConceptScore W2167379751C2779683239 @default.
- W2167379751 hasConceptScore W2167379751C2781179581 @default.
- W2167379751 hasConceptScore W2167379751C527108885 @default.
- W2167379751 hasConceptScore W2167379751C71924100 @default.
- W2167379751 hasIssue "Suppl 1" @default.
- W2167379751 hasLocation W21673797511 @default.
- W2167379751 hasOpenAccess W2167379751 @default.
- W2167379751 hasPrimaryLocation W21673797511 @default.
- W2167379751 hasRelatedWork W1963560244 @default.
- W2167379751 hasRelatedWork W2014513837 @default.
- W2167379751 hasRelatedWork W2167379751 @default.
- W2167379751 hasRelatedWork W2369995227 @default.
- W2167379751 hasRelatedWork W2370315044 @default.
- W2167379751 hasRelatedWork W2796130083 @default.
- W2167379751 hasRelatedWork W4247250565 @default.
- W2167379751 hasRelatedWork W4292951828 @default.
- W2167379751 hasRelatedWork W72246555 @default.
- W2167379751 hasRelatedWork W2500034969 @default.
- W2167379751 hasVolume "97" @default.
- W2167379751 isParatext "false" @default.
- W2167379751 isRetracted "false" @default.
- W2167379751 magId "2167379751" @default.
- W2167379751 workType "article" @default.