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산전 유전 검사로 진단된 3회 연속적인 모계 기원의 가족성 partial trisomy 4p와 4/22 전좌 이상(translocation) 예
양영호,김경수,김세광,김인규,민혜원,송찬호,Yang, Y.H.,Kim, G.S.,Kim, S.K.,Kim, I.K.,Min, H.W.,Song, C.H. 대한생식의학회 1994 Clinical and Experimental Reproductive Medicine Vol.21 No.1
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.
김영태 ( Y. T. Kim ),박용원 ( Y. W. Park ),김세광 ( S. K. Kim ),양영호 ( Y. H. Yang ),송찬호 ( C. H. Song ) 대한주산의학회 1990 Perinatology Vol.1 No.1
Down syndrome is by far the most common and best known of the chromosome disorders. Down syndrome can usually be diagnosed at birth or shortly thereafter by its phenotypic features. Recently direct access to fetal blood during the second and third trimesters of pregnancy opens new fields of prenatal diagnosis and in utero fetal treatment. Cordocentesis (percutaneous umbilical blood sampling), a method that involves ultrasonographically guided needle insertion into the umbilical vein, appeares to have an acceptable clinical trial. A case of Down syndrome diagnosed by cordcentesis is presented with brief review of literature.
성선 발육 부전 환자에 대한 임상 및 세포 유전학적 연구
이영진,양영호,김대현,김영민,Lee, Y.J.,Yang, Y.H.,Kim, D.H.,Kim, Y.M. 대한생식의학회 1983 Clinical and Experimental Reproductive Medicine Vol.10 No.2
As the cytogenetic developed, cytogenetic study has also developed progressively. This study is a systematical cytogenetic and clinico-hormonal analysis of 20 cases Wp.ere gonadal dysgenesis was diagnosed and deferred to the Dept. of obstetrics and Gynecology, Yonsei University, Medical School from Jan. 1974 to Aug. 1983. Twenty patients with the diagnosis of gonada dysgenesis have been assesed as to possible correlations between clinical, homonal and cytogenic findings. The desults were as follows; l. Gonadal dysgenesis were found in 20 cases, consisting of 15 cases (75%) of turnurs syndrome, 4 case of pure gonadal dysgenesis (20%), 46. XX and 1 case of mixed gonadal dysgenesis, 45,XO/46,XY. 2. Patients with XO karyotype, turner's ryndorme, have a resonably constant clinical picture of sexual infantilism with streak gonads, short status and webbed neck. 3. 17 cases were found primary amenorhea and two cases were noted with 2 ndary amenorrhea. one case has been presented with menstruation. 4. The rudimentary streak gonads were found in 7 cases of 8 cases and one case has a rudimentary streak gonad on one side and a testis on the contralateral side. 5. The study showed that potients with gonadal dysgenesis had an average of about 4-8 times higher basal FSH and about 3-7 times higher basal LH than that of the early follicular phase of normal menstrual cycle. 6. Two cases of three gonadal dysgenesis patieats, who performed LH-RH challage test, showed that the serum FSH levels reached the maximal level at 30 min after injection of CHRH and the serum LH level reached the maximal level at 60 min ofter injection of LHRH one case showed no significant response to LH-RH injection. Thus, bu studying simultoneously the clinical, cytogenic, hormonal aspects and visualization of gonads, we have gained some practical insight into the requirements for proper disgnosis and treatment.