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PMID: 3159519 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

A folate sensitive heritable fragile site at 19p13.

Clinical genetics ·Vol. 27 ·No. 5 ·1985-05-00 ·Pages 510-4

Tommerup N, Nielsen J, Mikkelsen M

Abstract

A fragile site at 19p13 was found in the mother of a newborn girl with Downs syndrome. The fragile site was expressed in medium containing low folate and by addition of FdU, whereas high folate, thymidine and thymidine-analogues inhibited the expression. This fragile site may prove valuable for linkage studies on chromosome 19.

MeSH Terms
Adult Cells, Cultured Chromosome Fragile Sites Chromosome Fragility Chromosome Mapping Chromosomes, Human, 19-20 Down Syndrome/genetics Female Folic Acid/pharmacology Humans Infant, Newborn Karyotyping Lymphocytes/ultrastructure Pedigree
Chemicals
Folic Acid
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Tommerup N
Nielsen J
Mikkelsen M
Article Info
Journal
Clinical genetics
Abbr.
Clin Genet
ISSN
0009-9163
DOI
10.1111/j.1399-0004.1985.tb00241.x
Published
1985-05-00
Pages
510-4
Language
English
Region
Denmark
NLM ID
0253664
Subset
IM
External Links
PubMed source DOI: 10.1111/j.1399-0004.1985.tb00241.x View journal details
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