FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2903766415> ?p ?o ?g. }

• W2903766415 abstract "Uniparental disomy (UPD) is a rare condition in which a child inherits both copies of a chromosome or chromosome segment from one parent. Medical consequences of UPD may include abnormal imprinting, unmasking of genetic disease, and somatic mosaicism; alternatively, the condition may be clinically silent. We present a case of maternal UPD for chromosome 6, a rare condition previously reported less than 20 times. In our patient with a normal phenotype, the condition was discovered through abnormal paternity testing results. Uniparental isodisomy is a rare cause of discordant parentage testing results, but it is an important phenomenon to recognize.We present a female born at 32 weeks gestational age with birth weight 10-25%ile when corrected for prematurity. Paternity testing was obtained for legal reasons, and initial results appeared to exclude the alleged father. However, the lab performed additional testing which indicated that the patient was homozygous for maternal alleles for all three tested loci located on chromosome 6. Based on these results, the patient was referred for a medical genetics evaluation for possible maternal uniparental disomy. She presented for her consultation at 10 months of age and appeared to be developing appropriately. Her age-adjusted weight, length, and head circumference were <3%ile, 10%ile, and 25%ile respectively. Chromosomal microarray testing confirmed maternal UPD6. The patient was seen again at 14 months of age, and her weight and length were 10-25%ile. She had not developed concerning symptoms or physical exam findings.The presence of UPD, especially in asymptomatic patients, has implications for paternity testing, as standard methods may miss cases of both isodisomy and heterodisomy. This rare inheritance pattern should be considered when discordant paternity results come under suspicion. It is unusual for a parentage testing lab to perform the amount of testing done for this case, but the initial inconsistencies necessitated further investigation. UPD6 has uncertain effects and variable phenotypes, so this patient's genetic abnormality likely would have gone undiscovered if not for the non-medical indication for the laboratory analysis. Her asymptomatic presentation raises the possibility that UPD may be more common than previously estimated." @default.
• W2903766415 created "2018-12-22" @default.
• W2903766415 creator A5013486491 @default.
• W2903766415 creator A5028148130 @default.
• W2903766415 creator A5029290135 @default.
• W2903766415 creator A5053054031 @default.
• W2903766415 creator A5086964932 @default.
• W2903766415 creator A5089678244 @default.
• W2903766415 creator A5089850848 @default.
• W2903766415 date "2018-12-01" @default.
• W2903766415 modified "2023-10-17" @default.
• W2903766415 title "Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report" @default.
• W2903766415 cites W1990155888 @default.
• W2903766415 cites W2007214149 @default.
• W2903766415 cites W2045688523 @default.
• W2903766415 cites W2078929515 @default.
• W2903766415 cites W2095559416 @default.
• W2903766415 cites W2132970617 @default.
• W2903766415 cites W2155614376 @default.
• W2903766415 cites W2167422870 @default.
• W2903766415 cites W2503979078 @default.
• W2903766415 cites W4245410002 @default.
• W2903766415 cites W4256521739 @default.
• W2903766415 doi "https://doi.org/10.1186/s13039-018-0411-3" @default.
• W2903766415 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6302445" @default.
• W2903766415 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30598700" @default.
• W2903766415 hasPublicationYear "2018" @default.
• W2903766415 type Work @default.
• W2903766415 sameAs 2903766415 @default.
• W2903766415 citedByCount "5" @default.
• W2903766415 countsByYear W29037664152020 @default.
• W2903766415 countsByYear W29037664152022 @default.
• W2903766415 crossrefType "journal-article" @default.
• W2903766415 hasAuthorship W2903766415A5013486491 @default.
• W2903766415 hasAuthorship W2903766415A5028148130 @default.
• W2903766415 hasAuthorship W2903766415A5029290135 @default.
• W2903766415 hasAuthorship W2903766415A5053054031 @default.
• W2903766415 hasAuthorship W2903766415A5086964932 @default.
• W2903766415 hasAuthorship W2903766415A5089678244 @default.
• W2903766415 hasAuthorship W2903766415A5089850848 @default.
• W2903766415 hasBestOaLocation W29037664151 @default.
• W2903766415 hasConcept C104317684 @default.
• W2903766415 hasConcept C150194340 @default.
• W2903766415 hasConcept C187212893 @default.
• W2903766415 hasConcept C190727270 @default.
• W2903766415 hasConcept C201492766 @default.
• W2903766415 hasConcept C2780332060 @default.
• W2903766415 hasConcept C2780673598 @default.
• W2903766415 hasConcept C30481170 @default.
• W2903766415 hasConcept C53226629 @default.
• W2903766415 hasConcept C54355233 @default.
• W2903766415 hasConcept C71924100 @default.
• W2903766415 hasConcept C86803240 @default.
• W2903766415 hasConcept C94715292 @default.
• W2903766415 hasConceptScore W2903766415C104317684 @default.
• W2903766415 hasConceptScore W2903766415C150194340 @default.
• W2903766415 hasConceptScore W2903766415C187212893 @default.
• W2903766415 hasConceptScore W2903766415C190727270 @default.
• W2903766415 hasConceptScore W2903766415C201492766 @default.
• W2903766415 hasConceptScore W2903766415C2780332060 @default.
• W2903766415 hasConceptScore W2903766415C2780673598 @default.
• W2903766415 hasConceptScore W2903766415C30481170 @default.
• W2903766415 hasConceptScore W2903766415C53226629 @default.
• W2903766415 hasConceptScore W2903766415C54355233 @default.
• W2903766415 hasConceptScore W2903766415C71924100 @default.
• W2903766415 hasConceptScore W2903766415C86803240 @default.
• W2903766415 hasConceptScore W2903766415C94715292 @default.
• W2903766415 hasLocation W29037664151 @default.
• W2903766415 hasLocation W29037664152 @default.
• W2903766415 hasLocation W29037664153 @default.
• W2903766415 hasLocation W29037664154 @default.
• W2903766415 hasOpenAccess W2903766415 @default.
• W2903766415 hasPrimaryLocation W29037664151 @default.
• W2903766415 hasRelatedWork W1534999478 @default.
• W2903766415 hasRelatedWork W1842998754 @default.
• W2903766415 hasRelatedWork W1966333540 @default.
• W2903766415 hasRelatedWork W2131687706 @default.
• W2903766415 hasRelatedWork W2141650552 @default.
• W2903766415 hasRelatedWork W2147354692 @default.
• W2903766415 hasRelatedWork W2889011315 @default.
• W2903766415 hasRelatedWork W2889405966 @default.
• W2903766415 hasRelatedWork W3087873416 @default.
• W2903766415 hasRelatedWork W3179965454 @default.
• W2903766415 isParatext "false" @default.
• W2903766415 isRetracted "false" @default.
• W2903766415 magId "2903766415" @default.
• W2903766415 workType "article" @default.