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    
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.
V G Dev; J Byrne; G Bunch
Related Documents :
25172916 - Novel x-linked genes revealed by qpcr in the green anole, anolis carolinensis.
24379036 - 46,xx male disorder of sexual development:a case report.
17011496 - The brain is getting ready for dinner.
15113306 - A systematic approach to the nasendoscopic examination of the larynx and pharynx.
12893086 - From genotype to phenotype: correlating xrcc1 polymorphisms with mutagen sensitivity.
20887376 - Contrasting patterns of nuclear and mtdna diversity in native american populations.
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    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Amniotic Fluid
Chromosome Banding
Chromosomes, Human, 13-15
Chromosomes, Human, 4-5
Cri-du-Chat Syndrome / diagnosis,  genetics*
Heterozygote Detection*
Nucleolus Organizer Region / ultrastructure
Prenatal Diagnosis
Translocation, Genetic*

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

Previous Document:  Cytogenetic effects of inactivated influenza virus on male germ cells of mice.
Next Document:  Polymorphism of alanine aminotransferase (E.C. common and rare alleles.