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KMID : 0358219940210010131
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Korean Journal of Fertility and Sterility
1994 Volume.21 No. 1 p.131 ~ p.136
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A Case of Prenatally Diagnosed, 3, Successive Familial Partial Trisomy 4p and 4/22 Translocation of Maternal Origin
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양영호
김경수/김세광/김인규/민혜원/송찬호
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Abstract
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A 27-year-old pregnant woman who had one son with mental and growh retardation and dysmorphic features, was referred for genetic counselling. Cytogenetic investigations revealed 4/22 translocation in the mother (46, XX, t (4/22) (p14; P11)),
partial
trisomy 4p in son (46, XY, -22, +der (22), t (4; 22) (p14; p11) mat). The father had normal karyotype. Amniocentesis and chorionic villi sampling were performed in 3 successive pregnancies. The karyotypes of fetus in 3rd, 4th pregnancies by
amniocentesis were 46, XX, t (4; 22) (p14; p11) and 46, XX, t (4;22) (p14; p11), and the karyotype of fetus in 5th pregnancy by chorionic villi sampling was found to be 46, XX, -22, +der (22) t (4; 22) (p14; p11) mat. We report 3 succesive
prenatally
diagnosed familial partial trisomy 4p and 4/22 translocation of maternal origin with review of literature.
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