Concomitant Turner syndrome and hemophilia A in a female with an idic(X)(p11) heterozygous at locus DXS52

C. Panarello, M. Acquila, D. Caprino, G. Gimelli, M. Pecorara, P. G. Moril

Research output: Contribution to journal › Article

20 Citations (Scopus)

Abstract

A 46, X, idic(X)(p11) karyotype was found in a female affected by Turner syndrome and sporadic moderate hemophilia A. Restriction fragment length polymorphism analysis of the patient’s DNA demonstrated that the idic(X) contained alleles from both maternal X chromosomes. Since the idic(X) appeared to be always inactivated, a de novo mutation of factor VIII in the normal paternal X chromosome is probably responsible for the patient’s coagulation disorder.

Original languageEnglish
Pages (from-to)241-242
Number of pages2
JournalCytogenetic and Genome Research
Volume59
Issue number4
DOIs
Publication statusPublished - 1992

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Turner Syndrome
Hemophilia A
X Chromosome
Factor VIII
Karyotype
Restriction Fragment Length Polymorphisms
Alleles
Mothers
Mutation
DNA

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Genetics(clinical)
  • Cell Biology

Cite this

Concomitant Turner syndrome and hemophilia A in a female with an idic(X)(p11) heterozygous at locus DXS52. / Panarello, C.; Acquila, M.; Caprino, D.; Gimelli, G.; Pecorara, M.; Moril, P. G.

In: Cytogenetic and Genome Research, Vol. 59, No. 4, 1992, p. 241-242.

Research output: Contribution to journal › Article

Panarello, C, Acquila, M, Caprino, D, Gimelli, G, Pecorara, M & Moril, PG 1992, 'Concomitant Turner syndrome and hemophilia A in a female with an idic(X)(p11) heterozygous at locus DXS52', Cytogenetic and Genome Research, vol. 59, no. 4, pp. 241-242. https://doi.org/10.1159/000133259
Panarello C, Acquila M, Caprino D, Gimelli G, Pecorara M, Moril PG. Concomitant Turner syndrome and hemophilia A in a female with an idic(X)(p11) heterozygous at locus DXS52. Cytogenetic and Genome Research. 1992;59(4):241-242. https://doi.org/10.1159/000133259
Panarello, C. ; Acquila, M. ; Caprino, D. ; Gimelli, G. ; Pecorara, M. ; Moril, P. G. / Concomitant Turner syndrome and hemophilia A in a female with an idic(X)(p11) heterozygous at locus DXS52. In: Cytogenetic and Genome Research. 1992 ; Vol. 59, No. 4. pp. 241-242.
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