Document Detail

Spinal dysraphia as an autosomal dominant defect in four families.
MedLine Citation:
PMID:  6751087     Owner:  NLM     Status:  MEDLINE    
Four families were selected randomly on the basis of the occurrence of spina-bifida cystica and/or spina bifida occulta in one or more family members. Sixty-three relatives were studied clinically and roentgenologically; their roentgenograms were evaluated blindly. Twenty-eight were clinically and roentgenologically normal; 35 were diagnosed as having spina bifida occulta (SBO), spina bifida cystica (SBC), vertebral anomalies, and/or external defects usually interpreted as evidence for SBO. Excluding one proband we found the frequency of SBO to be 19/51 (37%) and the frequency of all types of spinal/vertebral defects (excluding five probands) to be 30/58 (52%). The distribution of these defects in the four families was analyzed using likelihood methods corrected for random ascertainment. The log likelihood values for sporadic, recessive, and dominant models were -26.69, -20.95, and -18.90, respectively, indicating a higher likelihood of autosomal dominant inheritance than sporadic occurrence or recessive inheritance. The penetrance probability in this dominant model, estimated by maximum likelihood, is 0.749 +/- 0.100. Further examination of these data suggest that SBO and SBC represent different expressions of the same dominant gene in these kindreds.
R M Fineman; L B Jorde; R A Martin; S J Hasstedt; S D Wing; M L Walker
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  12     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1982 Aug 
Date Detail:
Created Date:  1982-12-02     Completed Date:  1982-12-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  457-64     Citation Subset:  IM    
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MeSH Terms
Gene Expression Regulation
Genes, Dominant*
Meningomyelocele / genetics*
Models, Genetic
Spina Bifida Occulta / genetics*

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