A Case of Female Hemophilia with a 46,XXr Karyotype Studied with X-chromosome DNA Probes

Overview

Journal Hum Genet

Specialty Genetics

Date 1986 Feb 1

PMID 3455922

Citations 4

Authors

S Gilgenkrantz

M E Briquel

J L Mandel

I Oberle

Affiliations

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Abstract

A case of female hemophilia with a 46,XXr/45,X karyotype and signs of Turner syndrome, has been followed for the past 10 years. One of her brothers also has hemophilia A. A study with polymorphic DNA probes located in the Xq27-qter region has enabled us to demonstrate that the ring chromosome is of paternal origin and that the factor VIII gene region is deleted. The hemizygous state allowed expression of the hemophilia A mutation, present on the morphologically normal X chromosome, inherited from her carrier mother.

Citing Articles

Severe haemophilia a in a preterm girl with turner syndrome - a case report from the prenatal period to early infancy (part I).

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PMID: 32894158 PMC: 7487698. DOI: 10.1186/s13052-020-00892-7.

Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.

Jones K, McNamara E, Longoni M, Miller D, Rohanizadegan M, Newman L Am J Med Genet A. 2018; 176(11):2435-2445.

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Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Dahl N, Hu L, Chery M, Fardeau M, Gilgenkrantz S, Nivelon-Chevallier A Am J Hum Genet. 1995; 56(5):1108-15.

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Alport syndrome, basement membranes and collagen.

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References

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