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

doi:10.1159/000133259

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	241-242
Number of pages	2
Journal	Cytogenetic and Genome Research
Volume	59
Issue number	4
DOIs	https://doi.org/10.1159/000133259
Publication status	Published - 1992

ASJC Scopus subject areas

Genetics
Molecular Biology
Genetics(clinical)
Cell Biology

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AU - Panarello, C.

AU - Acquila, M.

AU - Caprino, D.

AU - Gimelli, G.

AU - Pecorara, M.

AU - Moril, P. G.

PY - 1992

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AB - 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.

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SN - 1424-8581

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

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