THE RARE REGULAR TRISOMY 17: FREQUENCY AND PHENOTYPIC PORTRAIT
Abstract
This paper presents the data from our own research of frequency of full regular trisomy 17 (T17) based on 1808 samples of miscarriages, 1572 medical induced abortions at 5-11 weeks of gestation, and 9689 samples of invasive prenatal tests done between 11 and 24 weeks of pregnancy. The frequency of full T17 in all miscarriages was 1/152 and in medical induced abortions - 1/524; the population frequency of T17 in the first trimester accounted for 1/454.
Additionally, it presents the data on the proportion of T17 of all autosomal trisomies structure in different periods of fetal development. When performing invasive prenatal testing we detected 4 cases of T17 that represented 0, 58 % of autosomal trisomies among fetuses of 11-22 gestational weeks.
Furthermore, the paper introduces a symptom-complex of fetal abnormalities that are typical of regular full trisomy 17.
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References
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