Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia

C. G. Palmer, J. L. Blouin, M. J. Bull, P. Breitfeld, G. H. Vance, T. Van Meter, D. D. Weaver, N. A. Heerema, S. G. Colbern, J. R. Korenberg, S. E. Antonarakis, X. Chen

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

We describe a patient with an asymmetric double ring 21 in mosaic form, 45,XX,-21/46,XX,-21,+r(21), who has limited manifestations of Down syndrome and who developed acute myelofibrosis and megakaryocytic leukemia (AMKL), FAB M7, a hematologic disorder particularly common in Down syndrome patients. In situ hybridization studies, gene dosage, and DNA polymorphism analysis showed that the ring chromosome carries a duplicated region which extends from D21S406 on the centromeric side and includes marker D21S3 on the telomeric side. FISH studies indicate two sizes of ring 21 in the patient. The origin of the supernumerary chromosome 21 in the proband was paternal; furthermore, the r(21) probably was formed postzygotically. Included in the duplicated segment are the candidate genes for leukemia AML-1, ETS, and ERG. The potential significance of disomic homozygosity of loci on 21q in M7 megakaryocytic leukemia is discussed.

Original languageEnglish (US)
Pages (from-to)527-536
Number of pages10
JournalAmerican journal of medical genetics
Volume57
Issue number4
DOIs
StatePublished - Jul 10 1995

Fingerprint

Leukemia, Megakaryoblastic, Acute
Cytogenetic Analysis
Trisomy
Down Syndrome
Ring Chromosomes
Chromosomes, Human, Pair 21
Primary Myelofibrosis
Gene Dosage
In Situ Hybridization
Leukemia
DNA
Genes

Keywords

  • acute megakaryocytic leukemia
  • AML-1
  • Down syndrome
  • ERG
  • ETS
  • ring chromosome 21

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia. / Palmer, C. G.; Blouin, J. L.; Bull, M. J.; Breitfeld, P.; Vance, G. H.; Van Meter, T.; Weaver, D. D.; Heerema, N. A.; Colbern, S. G.; Korenberg, J. R.; Antonarakis, S. E.; Chen, X.

In: American journal of medical genetics, Vol. 57, No. 4, 10.07.1995, p. 527-536.

Research output: Contribution to journalArticle

Palmer, CG, Blouin, JL, Bull, MJ, Breitfeld, P, Vance, GH, Van Meter, T, Weaver, DD, Heerema, NA, Colbern, SG, Korenberg, JR, Antonarakis, SE & Chen, X 1995, 'Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia', American journal of medical genetics, vol. 57, no. 4, pp. 527-536. https://doi.org/10.1002/ajmg.1320570403
Palmer, C. G. ; Blouin, J. L. ; Bull, M. J. ; Breitfeld, P. ; Vance, G. H. ; Van Meter, T. ; Weaver, D. D. ; Heerema, N. A. ; Colbern, S. G. ; Korenberg, J. R. ; Antonarakis, S. E. ; Chen, X. / Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia. In: American journal of medical genetics. 1995 ; Vol. 57, No. 4. pp. 527-536.
@article{08e69b69a80344b4b1d98a99d85ae8b8,
title = "Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia",
abstract = "We describe a patient with an asymmetric double ring 21 in mosaic form, 45,XX,-21/46,XX,-21,+r(21), who has limited manifestations of Down syndrome and who developed acute myelofibrosis and megakaryocytic leukemia (AMKL), FAB M7, a hematologic disorder particularly common in Down syndrome patients. In situ hybridization studies, gene dosage, and DNA polymorphism analysis showed that the ring chromosome carries a duplicated region which extends from D21S406 on the centromeric side and includes marker D21S3 on the telomeric side. FISH studies indicate two sizes of ring 21 in the patient. The origin of the supernumerary chromosome 21 in the proband was paternal; furthermore, the r(21) probably was formed postzygotically. Included in the duplicated segment are the candidate genes for leukemia AML-1, ETS, and ERG. The potential significance of disomic homozygosity of loci on 21q in M7 megakaryocytic leukemia is discussed.",
keywords = "acute megakaryocytic leukemia, AML-1, Down syndrome, ERG, ETS, ring chromosome 21",
author = "Palmer, {C. G.} and Blouin, {J. L.} and Bull, {M. J.} and P. Breitfeld and Vance, {G. H.} and {Van Meter}, T. and Weaver, {D. D.} and Heerema, {N. A.} and Colbern, {S. G.} and Korenberg, {J. R.} and Antonarakis, {S. E.} and X. Chen",
year = "1995",
month = "7",
day = "10",
doi = "10.1002/ajmg.1320570403",
language = "English (US)",
volume = "57",
pages = "527--536",
journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia

AU - Palmer, C. G.

AU - Blouin, J. L.

AU - Bull, M. J.

AU - Breitfeld, P.

AU - Vance, G. H.

AU - Van Meter, T.

AU - Weaver, D. D.

AU - Heerema, N. A.

AU - Colbern, S. G.

AU - Korenberg, J. R.

AU - Antonarakis, S. E.

AU - Chen, X.

PY - 1995/7/10

Y1 - 1995/7/10

N2 - We describe a patient with an asymmetric double ring 21 in mosaic form, 45,XX,-21/46,XX,-21,+r(21), who has limited manifestations of Down syndrome and who developed acute myelofibrosis and megakaryocytic leukemia (AMKL), FAB M7, a hematologic disorder particularly common in Down syndrome patients. In situ hybridization studies, gene dosage, and DNA polymorphism analysis showed that the ring chromosome carries a duplicated region which extends from D21S406 on the centromeric side and includes marker D21S3 on the telomeric side. FISH studies indicate two sizes of ring 21 in the patient. The origin of the supernumerary chromosome 21 in the proband was paternal; furthermore, the r(21) probably was formed postzygotically. Included in the duplicated segment are the candidate genes for leukemia AML-1, ETS, and ERG. The potential significance of disomic homozygosity of loci on 21q in M7 megakaryocytic leukemia is discussed.

AB - We describe a patient with an asymmetric double ring 21 in mosaic form, 45,XX,-21/46,XX,-21,+r(21), who has limited manifestations of Down syndrome and who developed acute myelofibrosis and megakaryocytic leukemia (AMKL), FAB M7, a hematologic disorder particularly common in Down syndrome patients. In situ hybridization studies, gene dosage, and DNA polymorphism analysis showed that the ring chromosome carries a duplicated region which extends from D21S406 on the centromeric side and includes marker D21S3 on the telomeric side. FISH studies indicate two sizes of ring 21 in the patient. The origin of the supernumerary chromosome 21 in the proband was paternal; furthermore, the r(21) probably was formed postzygotically. Included in the duplicated segment are the candidate genes for leukemia AML-1, ETS, and ERG. The potential significance of disomic homozygosity of loci on 21q in M7 megakaryocytic leukemia is discussed.

KW - acute megakaryocytic leukemia

KW - AML-1

KW - Down syndrome

KW - ERG

KW - ETS

KW - ring chromosome 21

UR - http://www.scopus.com/inward/record.url?scp=0029037043&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029037043&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320570403

DO - 10.1002/ajmg.1320570403

M3 - Article

C2 - 7573123

AN - SCOPUS:0029037043

VL - 57

SP - 527

EP - 536

JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

SN - 1552-4825

IS - 4

ER -