Document Detail

Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8.
MedLine Citation:
PMID:  8042676     Owner:  NLM     Status:  MEDLINE    
We present a patient with a de novo inverted duplication of the short arm of chromosome 8. Molecular analysis confirmed the cytogenetic suspicion of a simultaneous deletion of the tip of the short arm and indicated the maternal origin of the abnormality. This deletion made no detectable contribution to the phenotype of the patient which was comparable to that of previous cases of 8p duplication. Similar investigations of inverted duplications involving other chromosomes may reveal unexpected deletions with significant phenotypic consequences.
J C Barber; R S James; C Patch; I K Temple
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Publication Detail:
Type:  Case Reports; Comment; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  50     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1994 Apr 
Date Detail:
Created Date:  1994-08-24     Completed Date:  1994-08-24     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  296-9     Citation Subset:  IM    
Wessex Regional Genetics Laboratory, Salisbury District Hospital, United Kingdom.
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MeSH Terms
Abnormalities, Multiple / genetics*
Chromosome Aberrations*
Chromosome Disorders
Chromosome Inversion*
Chromosomes, Human, Pair 8*
Clubfoot / genetics
Corpus Callosum / abnormalities
Infant, Newborn
Mental Retardation / genetics*
Multigene Family*
Scoliosis / genetics
Comment On:
Am J Med Genet. 1990 Jul;36(3):353-5   [PMID:  2194395 ]

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

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