Document Detail


Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.
MedLine Citation:
PMID:  4039107     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We are reporting a male patient who suffered from chronic granulomatous disease associated with cytochrome b-245 deficiency and McLeod red cell phenotype, Duchenne muscular dystrophy, and retinitis pigmentosa. On cytogenetic analysis, he seemed to have a very subtle interstitial deletion of part of band Xp21. Since it was impossible to know whether this material was truly deleted or inserted elsewhere in the genome, somatic cell and molecular studies were carried out. In somatic cell hybrids, the deleted X chromosome was isolated on a Chinese hamster background. Southern blot analysis with 20 single-copy probes, that had been mapped to the X short arm, led to the discovery of one (probe 754) that is missing from this patient's X chromosome and also from his total DNA. This proves that he, indeed, has a deletion rather than a balanced insertion. The results provide cytological mapping information for the X-linked phenotypes present in this patient. Furthermore, probe 754 recognizes a restriction fragment length polymorphism of high frequency that makes it the most powerful probe currently available for linkage studies with X-linked muscular dystrophy.
Authors:
U Francke; H D Ochs; B de Martinville; J Giacalone; V Lindgren; C Distèche; R A Pagon; M H Hofker; G J van Ommen; P L Pearson
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  37     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1985 Mar 
Date Detail:
Created Date:  1985-05-13     Completed Date:  1985-05-13     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  250-67     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Animals
Blood Group Antigens / genetics*
Cell Line
Child, Preschool
Chromosome Banding
Chromosome Deletion*
Chromosome Mapping*
Cricetinae
Cricetulus
Female
Granulomatous Disease, Chronic / complications,  genetics*
Humans
Hybrid Cells
Intestinal Obstruction / complications,  genetics
Karyotyping
Kell Blood-Group System / genetics*
Linkage (Genetics)
Male
Mental Retardation / complications,  genetics
Muscular Dystrophies / complications,  genetics*
Nucleic Acid Hybridization
Phenotype
Retinitis Pigmentosa / complications,  genetics*
Syndrome
X Chromosome*
Grant Support
ID/Acronym/Agency:
GM26105/GM/NIGMS NIH HHS; GM32156/GM/NIGMS NIH HHS
Chemical
Reg. No./Substance:
0/Blood Group Antigens; 0/Kell Blood-Group System
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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