FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2944556068> ?p ?o ?g. }

• W2944556068 abstract "The chromosome 3q29 microdeletion syndrome is characterized by a clinical phenotype that includes behavioral features consistent with autism and attention deficit hyperactivity disorder, mild to moderate developmental delay, language-based learning disabilities, and/or dysmorphic features. In addition, recent data suggest that adults with chromosome 3q29 microdeletions have a significantly increased risk for psychosis and neuropsychiatric phenotypes. We report a 3-year-old male with global developmental delay, anemia, and mild dysmorphic facial features. Clinical chromosomal microarray (CMA) testing of the proband detected a heterozygous 1.21 Mb deletion at chromosome 3q29, consistent with a diagnosis of the 3q29 microdeletion syndrome. Interestingly, subsequent parental testing determined that the pathogenic deletion was inherited from his otherwise healthy mother who had a history of learning disabilities. The chromosome 3q29 microdeletion was not detected in the healthy older sibling of the proband by CMA testing, nor was it prenatally detected in a subsequent maternal pregnancy. Our report highlights the 3q29 microdeletion syndrome as an illustrative example of the importance of a molecular diagnosis for families that harbor pathogenic copy number aberrations with variable expressivity, in particular those that also impart an increased risk for adult onset neuropsychiatric phenotypes." @default.
• W2944556068 created "2019-05-16" @default.
• W2944556068 creator A5029029867 @default.
• W2944556068 creator A5049261938 @default.
• W2944556068 creator A5056722454 @default.
• W2944556068 creator A5068447497 @default.
• W2944556068 date "2019-03-18" @default.
• W2944556068 modified "2023-10-14" @default.
• W2944556068 title "Familial inheritance of the 3q29 microdeletion syndrome: case report and review" @default.
• W2944556068 cites W1912672559 @default.
• W2944556068 cites W1964512314 @default.
• W2944556068 cites W1967770761 @default.
• W2944556068 cites W1995971511 @default.
• W2944556068 cites W1996154318 @default.
• W2944556068 cites W2003063028 @default.
• W2944556068 cites W2015560126 @default.
• W2944556068 cites W2021603243 @default.
• W2944556068 cites W2049605569 @default.
• W2944556068 cites W2051943303 @default.
• W2944556068 cites W2058598625 @default.
• W2944556068 cites W2071776627 @default.
• W2944556068 cites W2075331845 @default.
• W2944556068 cites W2094942174 @default.
• W2944556068 cites W2098261813 @default.
• W2944556068 cites W2102814771 @default.
• W2944556068 cites W2124147744 @default.
• W2944556068 cites W2128061834 @default.
• W2944556068 cites W2131587128 @default.
• W2944556068 cites W2131688545 @default.
• W2944556068 cites W2131907932 @default.
• W2944556068 cites W2142640460 @default.
• W2944556068 cites W2166657289 @default.
• W2944556068 cites W2170090311 @default.
• W2944556068 cites W2224903996 @default.
• W2944556068 cites W2227098102 @default.
• W2944556068 cites W2318738794 @default.
• W2944556068 cites W2542213537 @default.
• W2944556068 cites W2596764541 @default.
• W2944556068 cites W2617530335 @default.
• W2944556068 cites W2759464270 @default.
• W2944556068 cites W2769894830 @default.
• W2944556068 cites W2795258685 @default.
• W2944556068 cites W598433756 @default.
• W2944556068 doi "https://doi.org/10.1186/s12920-019-0497-4" @default.
• W2944556068 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6421695" @default.
• W2944556068 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30885185" @default.
• W2944556068 hasPublicationYear "2019" @default.
• W2944556068 type Work @default.
• W2944556068 sameAs 2944556068 @default.
• W2944556068 citedByCount "7" @default.
• W2944556068 countsByYear W29445560682020 @default.
• W2944556068 countsByYear W29445560682021 @default.
• W2944556068 countsByYear W29445560682022 @default.
• W2944556068 crossrefType "journal-article" @default.
• W2944556068 hasAuthorship W2944556068A5029029867 @default.
• W2944556068 hasAuthorship W2944556068A5049261938 @default.
• W2944556068 hasAuthorship W2944556068A5056722454 @default.
• W2944556068 hasAuthorship W2944556068A5068447497 @default.
• W2944556068 hasBestOaLocation W29445560681 @default.
• W2944556068 hasConcept C104317684 @default.
• W2944556068 hasConcept C118552586 @default.
• W2944556068 hasConcept C120821319 @default.
• W2944556068 hasConcept C127716648 @default.
• W2944556068 hasConcept C138496976 @default.
• W2944556068 hasConcept C141231307 @default.
• W2944556068 hasConcept C15744967 @default.
• W2944556068 hasConcept C187212893 @default.
• W2944556068 hasConcept C188997412 @default.
• W2944556068 hasConcept C205778803 @default.
• W2944556068 hasConcept C2776194465 @default.
• W2944556068 hasConcept C2776984250 @default.
• W2944556068 hasConcept C2778538070 @default.
• W2944556068 hasConcept C2779674439 @default.
• W2944556068 hasConcept C2780673598 @default.
• W2944556068 hasConcept C501734568 @default.
• W2944556068 hasConcept C54355233 @default.
• W2944556068 hasConcept C551499885 @default.
• W2944556068 hasConcept C60644358 @default.
• W2944556068 hasConcept C71924100 @default.
• W2944556068 hasConcept C80227256 @default.
• W2944556068 hasConcept C86803240 @default.
• W2944556068 hasConceptScore W2944556068C104317684 @default.
• W2944556068 hasConceptScore W2944556068C118552586 @default.
• W2944556068 hasConceptScore W2944556068C120821319 @default.
• W2944556068 hasConceptScore W2944556068C127716648 @default.
• W2944556068 hasConceptScore W2944556068C138496976 @default.
• W2944556068 hasConceptScore W2944556068C141231307 @default.
• W2944556068 hasConceptScore W2944556068C15744967 @default.
• W2944556068 hasConceptScore W2944556068C187212893 @default.
• W2944556068 hasConceptScore W2944556068C188997412 @default.
• W2944556068 hasConceptScore W2944556068C205778803 @default.
• W2944556068 hasConceptScore W2944556068C2776194465 @default.
• W2944556068 hasConceptScore W2944556068C2776984250 @default.
• W2944556068 hasConceptScore W2944556068C2778538070 @default.
• W2944556068 hasConceptScore W2944556068C2779674439 @default.
• W2944556068 hasConceptScore W2944556068C2780673598 @default.
• W2944556068 hasConceptScore W2944556068C501734568 @default.
• W2944556068 hasConceptScore W2944556068C54355233 @default.
• W2944556068 hasConceptScore W2944556068C551499885 @default.
• W2944556068 hasConceptScore W2944556068C60644358 @default.

• next