FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000165710> ?p ?o ?g. }

• W2000165710 endingPage "317" @default.
• W2000165710 startingPage "313" @default.
• W2000165710 abstract "Abstract Deletions of chromosome 22q11.2 are found in the vast majority of patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS). This most frequent microdeletion syndrome is estimated to occur in 1 in 4,000 live births. The majority of deletions are de novo, with 10% or less inherited from an affected parent. Here, we report two separate families with recurrence of a 22q11.2 deletion in first cousins. In each family, unaffected siblings (brother and sister) had an affected child. Fluorescence in situ hybridization (FISH) studies of the parents of each affected child were normal and hence, relatives were not considered at an increased risk for recurrence in another pregnancy. We used highly polymorphic microsatellite repeat markers from within 22q11.2 to determine the parental origin of each cousin's deletion and to assess whether parental germline mosaicism for the 22q11.2 deletion might be a factor in these cases. This analysis confirmed that in each case, the deletion occurred on a chromosome 22 derived from unrelated parents, consistent with independent de novo deletion events. Thus, we concluded that germline mosaicism as the underlying mechanism for affected cousins in these families was unlikely. Our findings underscore the high frequency with which the 22q11.2 deletion occurs in the general population and demonstrate the important role that PCR‐based parental origin determination can have in recurrence risk counselling. Furthermore, relatives of affected individuals may benefit from genetic counselling and consider prenatal testing for the 22q11.2 deletion in future pregnancies, despite a low recurrence risk. © 2003 Wiley‐Liss, Inc." @default.
• W2000165710 created "2016-06-24" @default.
• W2000165710 creator A5008262289 @default.
• W2000165710 creator A5023255205 @default.
• W2000165710 creator A5035452075 @default.
• W2000165710 creator A5042183876 @default.
• W2000165710 creator A5055724407 @default.
• W2000165710 creator A5061592912 @default.
• W2000165710 creator A5075502733 @default.
• W2000165710 creator A5080605394 @default.
• W2000165710 date "2003-08-08" @default.
• W2000165710 modified "2023-10-17" @default.
• W2000165710 title "Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome" @default.
• W2000165710 cites W1233117074 @default.
• W2000165710 cites W1482498530 @default.
• W2000165710 cites W1946354778 @default.
• W2000165710 cites W1965573357 @default.
• W2000165710 cites W1970321046 @default.
• W2000165710 cites W1983551736 @default.
• W2000165710 cites W199282799 @default.
• W2000165710 cites W1996391360 @default.
• W2000165710 cites W2002527619 @default.
• W2000165710 cites W2029965540 @default.
• W2000165710 cites W2048482373 @default.
• W2000165710 cites W2077139488 @default.
• W2000165710 cites W2097000949 @default.
• W2000165710 cites W2127191677 @default.
• W2000165710 doi "https://doi.org/10.1002/ajmg.a.20421" @default.
• W2000165710 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2811370" @default.
• W2000165710 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/14708107" @default.
• W2000165710 hasPublicationYear "2003" @default.
• W2000165710 type Work @default.
• W2000165710 sameAs 2000165710 @default.
• W2000165710 citedByCount "27" @default.
• W2000165710 countsByYear W20001657102012 @default.
• W2000165710 countsByYear W20001657102013 @default.
• W2000165710 countsByYear W20001657102014 @default.
• W2000165710 countsByYear W20001657102016 @default.
• W2000165710 countsByYear W20001657102020 @default.
• W2000165710 countsByYear W20001657102021 @default.
• W2000165710 countsByYear W20001657102022 @default.
• W2000165710 countsByYear W20001657102023 @default.
• W2000165710 crossrefType "journal-article" @default.
• W2000165710 hasAuthorship W2000165710A5008262289 @default.
• W2000165710 hasAuthorship W2000165710A5023255205 @default.
• W2000165710 hasAuthorship W2000165710A5035452075 @default.
• W2000165710 hasAuthorship W2000165710A5042183876 @default.
• W2000165710 hasAuthorship W2000165710A5055724407 @default.
• W2000165710 hasAuthorship W2000165710A5061592912 @default.
• W2000165710 hasAuthorship W2000165710A5075502733 @default.
• W2000165710 hasAuthorship W2000165710A5080605394 @default.
• W2000165710 hasBestOaLocation W20001657102 @default.
• W2000165710 hasConcept C104317684 @default.
• W2000165710 hasConcept C109825262 @default.
• W2000165710 hasConcept C138496976 @default.
• W2000165710 hasConcept C15744967 @default.
• W2000165710 hasConcept C180754005 @default.
• W2000165710 hasConcept C2776194465 @default.
• W2000165710 hasConcept C2777542201 @default.
• W2000165710 hasConcept C2779688345 @default.
• W2000165710 hasConcept C2908647359 @default.
• W2000165710 hasConcept C30481170 @default.
• W2000165710 hasConcept C48720390 @default.
• W2000165710 hasConcept C54355233 @default.
• W2000165710 hasConcept C61320498 @default.
• W2000165710 hasConcept C71924100 @default.
• W2000165710 hasConcept C80227256 @default.
• W2000165710 hasConcept C86803240 @default.
• W2000165710 hasConcept C99454951 @default.
• W2000165710 hasConceptScore W2000165710C104317684 @default.
• W2000165710 hasConceptScore W2000165710C109825262 @default.
• W2000165710 hasConceptScore W2000165710C138496976 @default.
• W2000165710 hasConceptScore W2000165710C15744967 @default.
• W2000165710 hasConceptScore W2000165710C180754005 @default.
• W2000165710 hasConceptScore W2000165710C2776194465 @default.
• W2000165710 hasConceptScore W2000165710C2777542201 @default.
• W2000165710 hasConceptScore W2000165710C2779688345 @default.
• W2000165710 hasConceptScore W2000165710C2908647359 @default.
• W2000165710 hasConceptScore W2000165710C30481170 @default.
• W2000165710 hasConceptScore W2000165710C48720390 @default.
• W2000165710 hasConceptScore W2000165710C54355233 @default.
• W2000165710 hasConceptScore W2000165710C61320498 @default.
• W2000165710 hasConceptScore W2000165710C71924100 @default.
• W2000165710 hasConceptScore W2000165710C80227256 @default.
• W2000165710 hasConceptScore W2000165710C86803240 @default.
• W2000165710 hasConceptScore W2000165710C99454951 @default.
• W2000165710 hasIssue "3" @default.
• W2000165710 hasLocation W20001657101 @default.
• W2000165710 hasLocation W20001657102 @default.
• W2000165710 hasLocation W20001657103 @default.
• W2000165710 hasLocation W20001657104 @default.
• W2000165710 hasOpenAccess W2000165710 @default.
• W2000165710 hasPrimaryLocation W20001657101 @default.
• W2000165710 hasRelatedWork W1946354778 @default.
• W2000165710 hasRelatedWork W1980181179 @default.
• W2000165710 hasRelatedWork W2000165710 @default.
• W2000165710 hasRelatedWork W2034464162 @default.
• W2000165710 hasRelatedWork W2076007521 @default.

• next