| Autor: |
Fernhoff, P M, Singh, D N, Hanson, J, Trusler, S, Dumont, C R, Chen, A T |
| Zdroj: |
Journal of Medical Genetics; Oct1976, Vol. 13 Issue 5, p389-393, 5p |
| Abstrakt: |
Four families are described with a t(13q14q) segregating. Two of them were identified through index cases with Down's syndrome; their karotypes revealed the unusual 46,XY, -13, -14, +t(13q14q), +21. The other two families were identified through a chromosomal study of parents with repeated spontaneous abortions. Analysis of data on 3 of these 4 families and on 7 other from the published reports showed no evidence of increased fetal wastage among 13/14 carriers. However, the risk of producing offspring with various types of aneuploidy may be greater among carriers than among persons with a normal chromosome pattern. Qualitative and quantitative differences in D/D translocations may account for the observed variation in clinical findings. These differences add to the problem of determining genetic risks from an analysis of grouped data. [ABSTRACT FROM PUBLISHER] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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