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Article: Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

TitlePhysical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly
Authors
Issue Date1994
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 1994, v. 3 n. 8, p. 1345-1354 How to Cite?
AbstractSplit hand/split foot (ectrodactyly; SHSF) is a human developmental malformation characterized by missing digits and claw-like extremities. An autosomal dominant form of this disorder has been mapped to 7q21.3-q22.1; the locus has been designated SHFD1. We have constructed a physical map consisting of overlapping yeast artificial chromosome clones for the entire region. Somatic cell hybrid and fluorescent in situ hybridization analyses were used to define SHSF-associated chromosomal rearrangements in twelve patients. An SHFD1 critical interval of 1.5 Mb was established by analysis of five patients with deletions. Translocation or inversion breakpoints found in six patients were mapped within 700 kb of each other in the critical region. Of note is that eight of the patients analyzed (67%) are in fact classified as having syndromic ectrodactyly. Thus, these mapping data establish a relationship between simple split hand/split foot and this more complex group of human birth defects. Finally, we have mapped DLX5, a member of the Distal-less homeobox gene family, to the SHFD1 critical interval.
Persistent Identifierhttp://hdl.handle.net/10722/44274
ISSN
2015 Impact Factor: 5.985
2015 SCImago Journal Rankings: 4.288
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorPoorkaj, Pen_HK
dc.contributor.authorMassa, Hen_HK
dc.contributor.authorSoder, Sen_HK
dc.contributor.authorAllen, Ten_HK
dc.contributor.authorNunes, Men_HK
dc.contributor.authorGeshuri, Den_HK
dc.contributor.authorWong, Een_HK
dc.contributor.authorBelloni, Een_HK
dc.contributor.authorLittle, Sen_HK
dc.contributor.authorZhou, Len_HK
dc.contributor.authorBecker, Den_HK
dc.contributor.authorKere, Jen_HK
dc.contributor.authorIgnatius, Jen_HK
dc.contributor.authorNiikawa, Nen_HK
dc.contributor.authorFukushima, Yen_HK
dc.contributor.authorHasegawa, Ten_HK
dc.contributor.authorWeissenbach, Jen_HK
dc.contributor.authorBoncinelli, Een_HK
dc.contributor.authorTrask, Ben_HK
dc.contributor.authorTsui, L-Cen_HK
dc.contributor.authorEvans, JPen_HK
dc.date.accessioned2007-09-12T03:50:25Z-
dc.date.available2007-09-12T03:50:25Z-
dc.date.issued1994en_HK
dc.identifier.citationHuman Molecular Genetics, 1994, v. 3 n. 8, p. 1345-1354en_HK
dc.identifier.issn0964-6906en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44274-
dc.description.abstractSplit hand/split foot (ectrodactyly; SHSF) is a human developmental malformation characterized by missing digits and claw-like extremities. An autosomal dominant form of this disorder has been mapped to 7q21.3-q22.1; the locus has been designated SHFD1. We have constructed a physical map consisting of overlapping yeast artificial chromosome clones for the entire region. Somatic cell hybrid and fluorescent in situ hybridization analyses were used to define SHSF-associated chromosomal rearrangements in twelve patients. An SHFD1 critical interval of 1.5 Mb was established by analysis of five patients with deletions. Translocation or inversion breakpoints found in six patients were mapped within 700 kb of each other in the critical region. Of note is that eight of the patients analyzed (67%) are in fact classified as having syndromic ectrodactyly. Thus, these mapping data establish a relationship between simple split hand/split foot and this more complex group of human birth defects. Finally, we have mapped DLX5, a member of the Distal-less homeobox gene family, to the SHFD1 critical interval.en_HK
dc.languageengen_HK
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/en_HK
dc.relation.ispartofHuman Molecular Genetics-
dc.subject.meshAbnormalities, multiple - geneticsen_HK
dc.subject.meshChromosome mappingen_HK
dc.subject.meshChromosomes, human, pair 7en_HK
dc.subject.meshFoot deformities, congenital - geneticsen_HK
dc.subject.meshHand deformities, congenital - geneticsen_HK
dc.titlePhysical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactylyen_HK
dc.typeArticleen_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1093/hmg/3.8.1345-
dc.identifier.pmid7987313-
dc.identifier.isiWOS:A1994PC82700020-

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