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Article: Physical mapping of the chromosome 7 breakpoint region in an SLOS Patient with t(7;20)(q32.1;q!3.2)

TitlePhysical mapping of the chromosome 7 breakpoint region in an SLOS Patient with t(7;20)(q32.1;q!3.2)
Authors
KeywordsBalanced translocation
Chromosome 7
Physical map
Positional cloning
Smith-lemli-opitz syndrome (slos)
Issue Date1997
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal Of Medical Genetics, 1997, v. 68 n. 3, p. 279-281 How to Cite?
AbstractSmith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by multiple congenital anomalies and mental retardation. SLOS has an associated defect in cholesterol biosynthesis, but the molecular genetic basis of this condition has not yet been elucidated. Previously our group reported a patient with a de novo balanced translocation [t(7;20)(q32.1;ql3.2)] fitting the clinical and biochemical profile of SLOS. Employing fluorescence in situ hybridization (FISH), a 1.8 Mb chromosome 7-specific yeast artificial chromosome (YAC) was identified which spanned the translocation breakpoint in the reported patient. The following is an update of the on-going pursuit to physically and genetically map the region further, as well as the establishment of candidate genes in the 7q32.1 breakpoint re-gion. ©1997Wiley-Liss,Inc.
Persistent Identifierhttp://hdl.handle.net/10722/44329
ISSN
2015 Impact Factor: 2.082
2015 SCImago Journal Rankings: 1.115
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorAlley, TLen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorHuizenga, JJen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorWallace, MRen_HK
dc.date.accessioned2007-09-12T03:51:30Z-
dc.date.available2007-09-12T03:51:30Z-
dc.date.issued1997en_HK
dc.identifier.citationAmerican Journal Of Medical Genetics, 1997, v. 68 n. 3, p. 279-281en_HK
dc.identifier.issn1552-4825en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44329-
dc.description.abstractSmith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by multiple congenital anomalies and mental retardation. SLOS has an associated defect in cholesterol biosynthesis, but the molecular genetic basis of this condition has not yet been elucidated. Previously our group reported a patient with a de novo balanced translocation [t(7;20)(q32.1;ql3.2)] fitting the clinical and biochemical profile of SLOS. Employing fluorescence in situ hybridization (FISH), a 1.8 Mb chromosome 7-specific yeast artificial chromosome (YAC) was identified which spanned the translocation breakpoint in the reported patient. The following is an update of the on-going pursuit to physically and genetically map the region further, as well as the establishment of candidate genes in the 7q32.1 breakpoint re-gion. ©1997Wiley-Liss,Inc.en_HK
dc.languageengen_HK
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.htmlen_HK
dc.relation.ispartofAmerican Journal of Medical Geneticsen_HK
dc.subjectBalanced translocationen_HK
dc.subjectChromosome 7en_HK
dc.subjectPhysical mapen_HK
dc.subjectPositional cloningen_HK
dc.subjectSmith-lemli-opitz syndrome (slos)en_HK
dc.subject.meshSmith-lemli-opitz syndrome (slos)en_HK
dc.subject.meshPositional cloningen_HK
dc.subject.meshBalanced translocationen_HK
dc.subject.meshPhysical mapen_HK
dc.subject.meshChromosome 7en_HK
dc.titlePhysical mapping of the chromosome 7 breakpoint region in an SLOS Patient with t(7;20)(q32.1;q!3.2)en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0148-7299&volume=68&issue=3&spage=279&epage=281&date=1997&atitle=Physical+mapping+of+the+chromosome+7+breakpoint+region+in+an+SLOS+patient+with+t(7;20)+(q32.1;q13.2)en_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1002/(SICI)1096-8628(19970131)68:3<279::AID-AJMG6>3.0.CO;2-H-
dc.identifier.pmid9024559-
dc.identifier.scopuseid_2-s2.0-0031052396en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0031052396&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume68en_HK
dc.identifier.issue3en_HK
dc.identifier.spage279en_HK
dc.identifier.epage281en_HK
dc.identifier.isiWOS:A1997WF47500006-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridAlley, TL=7004212249en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridHuizenga, JJ=7005960086en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridWallace, MR=14326167000en_HK

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