Matches in SemOpenAlex for { <https://semopenalex.org/work/W1597103687> ?p ?o ?g. }
Showing items 1 to 64 of
64
with 100 items per page.
- W1597103687 abstract "The 18q- syndrome is a partial aneuploidy disorder that is caused by a deletion of the distal part of the long arm of chromosome 18 (18q). Classically, patients exhibit growth deficiency, midfacial hypoplasia, carp-like mouth, developmental delay, and mental retardation. We report on the analysis of 33 patients with a deletion of 18q. The patients exhibit a wide variety of clinical symptoms and severity. The location and size of each deletion was determined by fluorescence in situ hybridization using 200 lambda phage clones that had been mapped to distinct regions of the chromosome. Deletion breakpoints ranging from 18q21.2 to 18q22.3 were observed. None of the deletions were interstitial based on the lack of hybridization of a 18q telomeric YAC clone to the deleted chromosome 18 homologue. A possible role for genomic imprinting was investigated by determination of the parental origin of the deletion using microsatellite markers. An equal frequency of paternally-derived deletions and maternally derived deletions was observed. In contrast to our previous findings with the larger patient sample, no correlation could be made between the size of the deletion, the parental origin of the deletion, the severity of the developmental delay, and the presence of specific clinical features. Thesemore » results suggest that a critical region for the 18q- syndrome maps to 18q22.3-qter, a region that confers the potential for having the different clinical features associated with the syndrome. Thus, accurate prognosis can not be made based on the size of the deletion and other factors such as the environment and genetic background may have a large influence on the severity of the disorder.« less" @default.
- W1597103687 created "2016-06-24" @default.
- W1597103687 creator A5015875124 @default.
- W1597103687 date "1994-09-01" @default.
- W1597103687 modified "2023-09-24" @default.
- W1597103687 title "Molecular and cytogenetic analysis of the 18q -syndrome" @default.
- W1597103687 hasPublicationYear "1994" @default.
- W1597103687 type Work @default.
- W1597103687 sameAs 1597103687 @default.
- W1597103687 citedByCount "0" @default.
- W1597103687 crossrefType "journal-article" @default.
- W1597103687 hasAuthorship W1597103687A5015875124 @default.
- W1597103687 hasConcept C104317684 @default.
- W1597103687 hasConcept C124942203 @default.
- W1597103687 hasConcept C180754005 @default.
- W1597103687 hasConcept C206936463 @default.
- W1597103687 hasConcept C24144980 @default.
- W1597103687 hasConcept C2777542201 @default.
- W1597103687 hasConcept C2779672484 @default.
- W1597103687 hasConcept C30481170 @default.
- W1597103687 hasConcept C53226629 @default.
- W1597103687 hasConcept C54355233 @default.
- W1597103687 hasConcept C61320498 @default.
- W1597103687 hasConcept C86803240 @default.
- W1597103687 hasConceptScore W1597103687C104317684 @default.
- W1597103687 hasConceptScore W1597103687C124942203 @default.
- W1597103687 hasConceptScore W1597103687C180754005 @default.
- W1597103687 hasConceptScore W1597103687C206936463 @default.
- W1597103687 hasConceptScore W1597103687C24144980 @default.
- W1597103687 hasConceptScore W1597103687C2777542201 @default.
- W1597103687 hasConceptScore W1597103687C2779672484 @default.
- W1597103687 hasConceptScore W1597103687C30481170 @default.
- W1597103687 hasConceptScore W1597103687C53226629 @default.
- W1597103687 hasConceptScore W1597103687C54355233 @default.
- W1597103687 hasConceptScore W1597103687C61320498 @default.
- W1597103687 hasConceptScore W1597103687C86803240 @default.
- W1597103687 hasLocation W15971036871 @default.
- W1597103687 hasOpenAccess W1597103687 @default.
- W1597103687 hasPrimaryLocation W15971036871 @default.
- W1597103687 hasRelatedWork W144804547 @default.
- W1597103687 hasRelatedWork W1894674651 @default.
- W1597103687 hasRelatedWork W1964950893 @default.
- W1597103687 hasRelatedWork W1965541105 @default.
- W1597103687 hasRelatedWork W1968140797 @default.
- W1597103687 hasRelatedWork W1980132527 @default.
- W1597103687 hasRelatedWork W1984672882 @default.
- W1597103687 hasRelatedWork W1994083793 @default.
- W1597103687 hasRelatedWork W1994116138 @default.
- W1597103687 hasRelatedWork W2012869396 @default.
- W1597103687 hasRelatedWork W2034878458 @default.
- W1597103687 hasRelatedWork W2047647680 @default.
- W1597103687 hasRelatedWork W2049797125 @default.
- W1597103687 hasRelatedWork W2060322804 @default.
- W1597103687 hasRelatedWork W2101257178 @default.
- W1597103687 hasRelatedWork W2116000213 @default.
- W1597103687 hasRelatedWork W2152634416 @default.
- W1597103687 hasRelatedWork W2169650879 @default.
- W1597103687 hasRelatedWork W2397547896 @default.
- W1597103687 hasRelatedWork W2775478752 @default.
- W1597103687 hasVolume "55" @default.
- W1597103687 isParatext "false" @default.
- W1597103687 isRetracted "false" @default.
- W1597103687 magId "1597103687" @default.
- W1597103687 workType "article" @default.