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PMID: 7129428 Published · ppublish English Case Reports Journal Article

Apparent homozygosity for the fragile site at Xq28 in a normal female.

Human genetics ·Vol. 61 ·No. 1 ·1982-00-00 ·Pages 60-2

Nielsen KB, Tommerup N, Poulsen H, Mikkelsen M

Abstract

暂无摘要

MeSH Terms
Adult Chromosome Banding Female Fragile X Syndrome/genetics Homozygote Humans Intellectual Disability/genetics Karyotyping Phenotype Sex Chromosome Aberrations/genetics X Chromosome/ultrastructure
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Nielsen K B
Tommerup N
Poulsen H
Mikkelsen M
References (9)
9 references, click to expand
  1. X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers.
    Hum Genet. 1981;59(1):23-5 PMID: 10819017
  2. Transposable elements and chromosomal rearrangements in cancer--a possible link.
    Nature. 1979 Nov 29;282(5738):447-9 PMID: 503225
  3. Further delineation of X-linked mental retardation.
    Hum Genet. 1981;58(4):366-72 PMID: 6948768
  4. Nucleotide sequence of Moloney leukemia virus: 3' end reveals details of replications, analogy to bacterial transposons, and an unexpected gene.
    Proc Natl Acad Sci U S A. 1980 Jun;77(6):3302-6 PMID: 6251454
  5. Heritable fragile sites and lymphocyte culture medium containing BrdU.
    Am J Hum Genet. 1980 Jul;32(4):628-9 PMID: 7395874
  6. High resolution of human chromosomes.
    Science. 1976 Mar 26;191(4233):1268-70 PMID: 1257746
  7. Marker X chromosome induction in fibroblasts by FUdR.
    Am J Med Genet. 1981;9(3):263-4 PMID: 6456666
  8. Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture.
    Am J Hum Genet. 1979 Mar;31(2):125-35 PMID: 36752
  9. Heritable fragile sites on human chromosomes. V. A new class of fragile site requiring BrdU for expression.
    Am J Hum Genet. 1980 Jul;32(4):542-8 PMID: 7395866
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00291334
Published
1982-00-00
Pages
60-2
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00291334 View journal details
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