Matches in SemOpenAlex for { <https://semopenalex.org/work/W2010018280> ?p ?o ?g. }
Showing items 1 to 69 of
69
with 100 items per page.
- W2010018280 endingPage "104" @default.
- W2010018280 startingPage "99" @default.
- W2010018280 abstract "Trisomy 5p and Miller-Dieker syndromes frequently are the result of unbalanced segregations of reciprocal translocations of chromosomes 5 and 17 with other autosomes. The critical regions for the expression of the mentioned syndromes have been mapped to 5p13→pter, and 17p13.3→pter. In this report, we describe an 8-year-old girl with mental retardation, postnatal growth deficiency, generalized muscular hypotonia, seizures, microcephaly, cortical atrophy, partial agenesis of corpus callosum, cerebral ventriculomegaly, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the presence of a 46,XX,der(17)t(5;17)(p13.1;p13.3)mat chromosome complement. Cytogenetic studies of the family confirmed a balanced reciprocal translocation (5;17)(p13.1;p13.3) in her mother, maternal grandfather, maternal aunt, and a female first cousin. Fluorescence in situ hybridization studies on the mother and the proposita using three probes, which map to distal 17p, confirmed the reciprocal translocation in the mother and a terminal deletion in the patient, which resulted in the retention of LIS1 and D17S379 loci and deletion of the 17p telomere. These findings and the phenotype of the proposita, strongly suggest that genes telomeric to LIS1 and locus D17S379 are involved in many clinical findings, including the minor facial anomalies of the Miller-Dieker syndrome. Am. J. Med. Genet. 85:99–104, 1999 © 1999 Wiley-Liss, Inc." @default.
- W2010018280 created "2016-06-24" @default.
- W2010018280 creator A5002772088 @default.
- W2010018280 creator A5031011585 @default.
- W2010018280 creator A5044770358 @default.
- W2010018280 creator A5070769975 @default.
- W2010018280 date "1999-07-16" @default.
- W2010018280 modified "2023-09-27" @default.
- W2010018280 title "Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to theLIS1 and the D17S379 loci" @default.
- W2010018280 cites W1969972915 @default.
- W2010018280 cites W1984481433 @default.
- W2010018280 cites W1989030221 @default.
- W2010018280 cites W1996147977 @default.
- W2010018280 cites W2019216965 @default.
- W2010018280 cites W2079568034 @default.
- W2010018280 cites W2081567250 @default.
- W2010018280 cites W2090650636 @default.
- W2010018280 cites W2092920672 @default.
- W2010018280 cites W2126833081 @default.
- W2010018280 cites W2139264976 @default.
- W2010018280 cites W2144359192 @default.
- W2010018280 cites W4229924429 @default.
- W2010018280 doi "https://doi.org/10.1002/(sici)1096-8628(19990716)85:2<99::aid-ajmg1>3.0.co;2-w" @default.
- W2010018280 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10406660" @default.
- W2010018280 hasPublicationYear "1999" @default.
- W2010018280 type Work @default.
- W2010018280 sameAs 2010018280 @default.
- W2010018280 citedByCount "10" @default.
- W2010018280 crossrefType "journal-article" @default.
- W2010018280 hasAuthorship W2010018280A5002772088 @default.
- W2010018280 hasAuthorship W2010018280A5031011585 @default.
- W2010018280 hasAuthorship W2010018280A5044770358 @default.
- W2010018280 hasAuthorship W2010018280A5070769975 @default.
- W2010018280 hasConcept C104317684 @default.
- W2010018280 hasConcept C138626823 @default.
- W2010018280 hasConcept C2776395126 @default.
- W2010018280 hasConcept C2779546488 @default.
- W2010018280 hasConcept C54355233 @default.
- W2010018280 hasConcept C84597430 @default.
- W2010018280 hasConcept C86803240 @default.
- W2010018280 hasConceptScore W2010018280C104317684 @default.
- W2010018280 hasConceptScore W2010018280C138626823 @default.
- W2010018280 hasConceptScore W2010018280C2776395126 @default.
- W2010018280 hasConceptScore W2010018280C2779546488 @default.
- W2010018280 hasConceptScore W2010018280C54355233 @default.
- W2010018280 hasConceptScore W2010018280C84597430 @default.
- W2010018280 hasConceptScore W2010018280C86803240 @default.
- W2010018280 hasIssue "2" @default.
- W2010018280 hasLocation W20100182801 @default.
- W2010018280 hasLocation W20100182802 @default.
- W2010018280 hasOpenAccess W2010018280 @default.
- W2010018280 hasPrimaryLocation W20100182801 @default.
- W2010018280 hasRelatedWork W1597107776 @default.
- W2010018280 hasRelatedWork W1999170901 @default.
- W2010018280 hasRelatedWork W2030334363 @default.
- W2010018280 hasRelatedWork W2053384383 @default.
- W2010018280 hasRelatedWork W2057739827 @default.
- W2010018280 hasRelatedWork W2073416603 @default.
- W2010018280 hasRelatedWork W2078397690 @default.
- W2010018280 hasRelatedWork W2081577609 @default.
- W2010018280 hasRelatedWork W2567460251 @default.
- W2010018280 hasRelatedWork W29518802 @default.
- W2010018280 hasVolume "85" @default.
- W2010018280 isParatext "false" @default.
- W2010018280 isRetracted "false" @default.
- W2010018280 magId "2010018280" @default.
- W2010018280 workType "article" @default.