Uveal coloboma and true Klinefelter syndrome.
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چکیده
منابع مشابه
Uveal coloboma and true Klinefelter syndrome.
The clinical features of 'Klinefelter' syndrome were first described by Klinefelter, Reifenstein, and Albright (1942). The true Klinefelter syndrome is chromatin-positive and is due to X chromosome polysomy, most frequently 47,XXY (Jacobs and Strong, 1959), but karyotypes with one or more X's or Y's additional to the XXY formula, such as 48,XXXY, 49,XXXXY, and mosaicisms of XXY with other stem-...
متن کاملUveal colobomata and Klinefelter syndrome.
Most multiple congenital abnormality syndromes associated with uveal colobomata have their origins dating from before intrauterine development. Causative genetic and chromosomal influences were reviewed (James, Karseras, and Wybar, 1974), but associated abnornalities of the sex chromosomes were not observed in their series and are a rare occurrence in the literature. It is of interest therefore...
متن کاملSystemic associations of uveal coloboma.
Closure of the optic cleft occurs about the sixth week of intrauterine life. Clinically, failure of complete closure results in a coloboma of the uveal tract which is variable in its position and extent, and there is sometimes also an associated coloboma of the optic nervehead; defective closure of the cleft is known to be under genetic influence. The usual mode of transmission of such a defect...
متن کاملKlinefelter syndrome
Some males with Klinefelter syndrome have the extra X chromosome only in some of their cells (mosaic Klinefelter syndrome). In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY) to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in ph...
متن کاملKlinefelter syndrome
Some males with Klinefelter syndrome have the extra X chromosome only in some of their cells (mosaic Klinefelter syndrome). In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY) to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in ph...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1970
ISSN: 1468-6244
DOI: 10.1136/jmg.7.3.213