Document Detail


Pallister-Killian syndrome: cytogenetic and molecular studies.
MedLine Citation:
PMID:  2887316     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Pallister-Killian syndrome is a dysmorphic syndrome characterized by a tissue-limited mosaicism: a majority of fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. In this study, the interpretation of the extra chromosome as composed of two short arms of chromosome 12 is confirmed, using molecular methods. Furthermore, restriction fragment length polymorphisms indicate that the two arms are identical, which is compatible with the hypothesis of an isochromosome 12p. A new feature which may be important in understanding the mechanism of origin of the abnormality is described: the proportion of abnormal mitoses falls dramatically during long-term culture of fibroblasts.
Authors:
P Peltomäki; S Knuutila; A Ritvanen; I Kaitila; A de la Chapelle
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  31     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1987 Jun 
Date Detail:
Created Date:  1987-09-30     Completed Date:  1987-09-30     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  399-405     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Aneuploidy*
Chimera
Chromosomes, Human, Pair 21*
Female
Humans
Mental Retardation / genetics*
Polymorphism, Restriction Fragment Length
Syndrome

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


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