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PMID: 6852829 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Coincidence between fragile site expression and interstitial deletion of chromosome 11 in a case of myelofibrosis.

Human genetics ·Vol. 63 ·No. 3 ·1983-00-00 ·Pages 299-301

Sessarego M, Ajmar F, Ravazzolo R, Bianchi Scarrà GL, Garrè C, Boccaccio P

Abstract

Cytogenetic examination of multiple peripheral blood cultures of a patient with myelofibrosis with myeloid metaplasia revealed the presence of an interstitial deletion of the long arm of chromosome 11, del(11)(q13q21). A folic acid dependent fragile site fra(11)(q13) was found in about 12% of the cells. The possible correlation between constitutional fragile site and acquired chromosomal alteration is discussed briefly.

MeSH Terms
Chromosome Deletion Chromosome Fragile Sites Chromosome Fragility Chromosomes, Human, 6-12 and X Female Humans Middle Aged Primary Myelofibrosis/genetics
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Sessarego M
Ajmar F
Ravazzolo R
Bianchi Scarrà G L
Garrè C
Boccaccio P
References (5)
5 references, click to expand
  1. Cytogenetic abnormalities in a patient with hypercalcemia and papillary thyroid carcinoma.
    Hum Genet. 1982;60(3):291-3 PMID: 7106763
  2. High resolution of human chromosomes.
    Science. 1976 Mar 26;191(4233):1268-70 PMID: 1257746
  3. 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
  4. Acute monocytic leukemia chromosome studies.
    Leuk Res. 1982;6(1):17-26 PMID: 6951102
  5. Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics.
    Am J Hum Genet. 1979 Mar;31(2):136-48 PMID: 453198
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00284671
Published
1983-00-00
Pages
299-301
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00284671 View journal details
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