The clinical and laboratory findings in this patient are consistent with a diagnosis of Barth syndrome, an X-linked disorder
characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, and the presence of 3-methylglutaconic acid (3-MGA) in urine.
Incontinentia pigmenti is X-linked disorder
affecting Skin, Hair, Teeth and Central Nervous System.
Choroideremia is an X-linked disorder
, which means that it is caused by a faulty gene, called CHM, on the X chromosome.
7) However, two of the best-described forms of Kallman syndrome are inherited autosomal dominant and X-linked disorder
Hemophilia B is an X-linked disorder
resulting from a defect in the gene encoding human factor IX (FIX).
The X-linked disorder
was first recognized in 1966 by the late Viennese physician Dr.
Classic haemophilia is an X-linked disorder
, with either a deficiency of factor VIII (haemophilia A), or of factor IX (haemophilia B) being inherited from the mother.
It is of interest that the guilt experience focused not only on the impact of bringing an affected child into the world but also the impact this choice would have on the grandparents, who in many cases had already watched a child die because of an X-linked disorder
Johnson and his colleagues believe that if their method can be used to sort human sperm, it will eliminate some of the ethical dilemmas that crop up when researchers sort embryos to avoid an X-linked disorder
So far, they have been successful in identifying DNA from the Y chromosome, indicating that the foetus is a boy and therefore could be at risk of inheriting an X-linked disorder
such as Duchenne's muscular dystrophy and haemophilia.
Although the coding region of the GJB1 gene is only a single-exon gene, it allowed us to test and validate HRM as a gene-scanning method for an X-linked disorder
, in which all heterozygous female and homozygous male mutations were detected.