| Autor: |
Canham, Natalie, Francis, N.S., Webb, T., Cole, T. |
| Předmět: |
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| Zdroj: |
Journal of Medical Genetics; Sep2003 Supplement, Vol. 40, pS67-S67, 1/4p |
| Abstrakt: |
Oligodontia is the absence of 6 or more permanent teeth without associated systemic disorders, Hypodontia is the absence of less than 6 permanent teeth. There are two previous reports of families segregating Oligodontia in an X-linked manner, with Hypodontia in carrier females. We report a large family segregating Oligo/Hypodontia over 5 generations with 18 affected individuals. Affected females are all missing the upper 2nd incisors only, affected males are missing all lower and upper 2nd incisors, as well as varying numbers of upper and lower pre-molars. One obligate carrier female has normal dentition. There are no other syndromic features, and particularly no abnormalities of hair or sweating. Linkage analysis established tentative linkage to the Anhidrotic Ectodermal Dysplasia locus EDA at Xq12-13 (MIM 305100). However, an intragenic marker was used to show that different affected individuals carried different alleles at this locus. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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