| X-linked recessive inheritance of radial ray deficiencies in a family with four affected males. | |
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MedLine Citation:
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PMID: 11571552 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Radial ray deficiencies are frequently associated with additional clinical anomalies and have a heterogeneous aetiology. X-linked forms are extremely rare. We report a family in which four male relatives show bilateral absence of the radius with presence of the thumbs and associated anomalies. The segregation of the phenotype is suggestive for X-linked recessive inheritance. This is confirmed by performing linkage analysis using 24 markers spanning the X chromosome in which a maximum lod score of 1.93 for DXS8067 and DXS1001 is obtained. We defined a critical region of maximal 16.2 cM on the X chromosome with haplotype analysis. |
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Authors:
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R J Galjaard; N Kostakoglu; J J Hoogeboom; G J Breedveld; H C van der Linde; S E Hovius; B A Oostra; L A Sandkuijl; A N Akarsu; P Heutink |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: 9 ISSN: 1018-4813 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2001 Sep |
Date Detail:
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Created Date: 2001-09-25 Completed Date: 2001-12-04 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: England |
Other Details:
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Languages: eng Pagination: 653-8 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, Erasmus University/University Hospital, Rotterdam, The Netherlands. r.j.h.galjaard@kgen.fgg.eur.nl |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/312190; 314390 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
pathology Adult Child Child, Preschool DNA / genetics Family Health Fatal Outcome Female Haplotypes Humans Infant Linkage (Genetics) Lod Score Male Microsatellite Repeats Pedigree Radius / abnormalities* Thumb / abnormalities* X Chromosome / genetics* |
| Chemical | |
Reg. No./Substance:
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9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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