Examination under anaesthesia at 4 months of age showed a perforation of the right cornea with a prolapsed iris. The corneal opacity in the left eye was at the level of the posterior stroma. In addition, there were peripheral synechiae and collarette adhesions, retinoscopy showed 10 dioptres of myopia, and examination of the fundus showed a myopic disc. The lens was clear and intraocular pressures were normal.At 8 months of age-her height and weight were below the 3rd centile and her early developmental milestones were within normal limits allowing for the degree of visual handicap. In addition, her skin lesions were much less obvious.Cranial CT scan was normal apart from some enlargement of the third ventricle. Steroid sulphatase activity was present at a normal female level.
The mammalian sex chromosomes are thought to be related to each other by sharing a common origin. That is, the X and Y chromosomes originally evolved from a pair of chromosomes that only differed at the locus determining sexual differentiation. For example, this evolutionary relationship is reflected during meiosis in chromosomal pairing between the tip of the human X chromosome short arm and the Y chromosome which presumably implies sequence homology. However, compelling genetic evidence for functional homology between the mammalian X and Y chromosome is lacking. We describe here the localization of a gene to the tip of the short arm of the human X chromosome and evidence for a related gene on the Y chromosome.
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