Document Detail


Miller-Dieker syndrome: lissencephaly and monosomy 17p.
MedLine Citation:
PMID:  6834189     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Miller-Dieker syndrome, which includes lissencephaly and a characteristic phenotypic appearance, has been reported to have an autosomal recessive pattern of inheritance. However, we have found abnormalities of chromosome 17 in two of three unrelated patients with this syndrome, one with a ring chromosome 17 and the other with an unbalanced translocation resulting in partial monosomy of 17p13. A review of the literature revealed five additional patients in three families, who had Miller-Dieker syndrome and an abnormality of 17p. Thus, we propose that monosomy of distal 17p may be the cause of Miller-Dieker syndrome in some patients.
Authors:
W B Dobyns; R F Stratton; J T Parke; F Greenberg; R L Nussbaum; D H Ledbetter
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  102     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  1983 Apr 
Date Detail:
Created Date:  1983-05-05     Completed Date:  1983-05-05     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  552-8     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics
Adult
Cerebral Cortex / abnormalities*,  radiography
Child, Preschool
Chromosome Aberrations* / genetics*
Chromosome Banding
Chromosome Disorders*
Chromosomes, Human, 16-18*
Female
Humans
Infant
Male
Microcephaly / genetics
Phenotype
Seizures / genetics
Syndrome
Translocation, Genetic

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


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