A woman with an apparent non-mosaic 45,X delivered a 46,X,der(X) liveborn female
β Scribed by G. Palka; G. Calabrese; L. Stuppia; P. Guanciali Franchi; E. Morizio; R. Peila; A. Antonucci
- Book ID
- 115091490
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 392 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0009-9163
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From a Family With X-Linked Congenital Nystagmus" [Gutmann et al., 19911. It is correct that in the 1960s and 1970s it was well established that loss of X and Y chromosomes occurred regularly in association with increasing age. Berry and Docherty suggest that the mosaicism in our patient is likely t
X-linked congenital nystagmus is a rare disorder in which affected males manifest binocular uniplanar nystagmus with associated head oscillation. In the families previously reported, affected females have been described. We report on a multigeneration family with X-linked congenital nystagmus with a