Document Detail


Partial translocation of NOR and its activity in a balanced carrier and in her cri-du-chat fetus.
MedLine Citation:
PMID:  511156     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Cytogenetic analysis of a balanced reciprocal translocation t(5;13) carrier and her unbalanced 5p- conceptus was carried out. This carrier mother had previously given birth to a child with cri-du-chat syndrome. Silver staining demonstrated the breakpoint on 13p within the nucleolus organizer region (NOR). In the carrier, the NORs both at the original site (13p) and at the translocated site (5p) were silver-stained, indicating that the rRNA genes at both sites were transcribed. The NOR at the derivative chromosome 5 was also silver-stained in the fetus.
Authors:
V G Dev; J Byrne; G Bunch
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Human genetics     Volume:  51     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1979 Oct 
Date Detail:
Created Date:  1980-02-15     Completed Date:  1980-02-15     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  277-80     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Amniotic Fluid
Chromosome Banding
Chromosomes, Human, 13-15
Chromosomes, Human, 4-5
Cri-du-Chat Syndrome / diagnosis,  genetics*
Female
Fetus
Heterozygote Detection*
Humans
Karyotyping
Male
Nucleolus Organizer Region / ultrastructure
Pregnancy
Prenatal Diagnosis
Translocation, Genetic*

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


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