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
Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotype
โ Scribed by M. C. Digilio; R. Mingarelli; B. Marino; A. Giannotti; S. Melchionda; B. Dallapiccola
- Book ID
- 115091619
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 322 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0009-9163
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๐ SIMILAR VOLUMES
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
Ring X chromosomes that do not undergo inactivation may cause malformations and mental retardation. We report on a fetus with anencephaly, total dorsal rachischisis, and diaphragmatic hernia that was found to have a mosaic 45,X/46,X,r(X)(p11.22q12) karyotype. Fluorescent in situ hybridization (FISH)