Document Detail


Cytogenetic findings in Roberts-SC phocomelia syndrome(s).
MedLine Citation:
PMID:  495649     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Roberts syndrome and SC phocomelia syndrome are an autosomal recessive condition of prenatal and postnatal growth retardation, symmetrical limb reduction, and craniofacial abnormalities. A distinction has been made between the two syndromes on the basis of relative severity of these manifestations. Where chromosome studies have been carried out, most have been reported as normal. However, there have been two reports of consistent centromere abnormalities; one in a patient with SC phocomelia (pseudothalidomide syndrome), the other in a patient with Roberts syndrome. Four patients with similar phenotypic manifestations have recently been shown in our laboratory to have the same centromere puffing and splitting. These four patients had other clinical manifestations in common, including bilateral corneal opacities, microcephaly, absence of radii, limited extension at knees and elbows, apparent enlargement of the phallus, and survival beyond the neonatal period.
Authors:
D Tomkins; A Hunter; M Roberts
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  4     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1979  
Date Detail:
Created Date:  1979-12-29     Completed Date:  1979-12-29     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  17-26     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Cells, Cultured
Chromosomes, Human / ultrastructure*
Double-Blind Method
Ectromelia / genetics*
Female
Growth Disorders / genetics*
Humans
Infant, Newborn
Karyotyping
Lymphocytes / ultrastructure
Male
Skin / ultrastructure
Syndrome

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


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