• Title/Summary/Keyword: Women's clinic

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Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus

  • Lee, Dongsook;Park, Heeju;Kwak, Sanha;Lee, Soomin;Go, Sanghee;Park, Sohyun;Jo, Sukyung;Kim, Kichul;Lee, Seunggwan;Hwang, Doyeong
    • Journal of Genetic Medicine
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    • v.13 no.2
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    • pp.95-98
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    • 2016
  • We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a normal 46,XX karyotype, whereas the father exhibited a 46,XY,der(15)t(Y;15) karyotype. We performed cytogenetic analysis of the father's family as a result of the father and confirmed the same karyotype in his mother and brother. Fluorescence in situ hybridization and quantitative fluorescent-polymerase chain reaction analysis identified the breakpoint and demonstrated the absence of the SRY gene in female members. Thus, the proband inherited this translocation from the father and grandmother. This makes the prediction of the fetal phenotype possible through assessing the grandmother. Therefore, we suggest that conventional cytogenetic and molecular cytogenetic methods, in combination with family history, provide informative results for prenatal diagnosis and prenatal genetic counseling.

Sex Determination by Polymerase Chain Reaction (Polymerase Chain Reaction을 이용한 성의 감별)

  • Sohn, Seong-Soo;Kang, Nam-I;Kim, Jae-Myung;Koh, Young-Ho;Suh, Byung-Hee
    • Clinical and Experimental Reproductive Medicine
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    • v.21 no.3
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    • pp.281-284
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    • 1994
  • Sex determination in genomic DNA from human blood leucocytes was performed by amplification of human Y chromosome-specific DNA sequences using PCR technique. A clear DNA fragment(154 nucleotides long) was appeared only in the male genomic DNA, but no specific band was observed in the case of female genomic DNA and negative control. To know the sensitivity of this method, the amplification reaction was performed in genomic DNA diluted to 2pg equivalent to the amonut present in the single human cell, and clear band also observed. The PCR amplification was so succesfully performed in the single leucocyte separated from human blood using micromanipulator that this techniqe is assumed to be applied to single blstomere before embryo transfer.

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Evaluation of Water Quality using ICR Mouse 1-cell Embryo (ICR계 생쥐 1세포배를 이용한 수질의 평가)

  • Kim, Chung-Hyon;Cheong, Kyung-Soon;Park, So-Hyun;Hwang, Do-Yeong;Kim, Ki-Chul;Min, Eung-Gi
    • Clinical and Experimental Reproductive Medicine
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    • v.21 no.1
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    • pp.63-68
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    • 1994
  • To confirm the overcome of in vitro 2-cell block, ICR mouse I-cell embryos were cultured in CZB media. All embryos in CZB were overcome in vitro 2-cell block and 92% of embryos were developed to the blastocyst at day 4. However, in m-KRB group(control) only 20% of embryos were developed over 2-cell. Any embryos in m-KRB did not develop to the morular stage. Developments and degenerations of ICR mouse I-cell embryos were compared in CZB medium prepared with water of three quality:(l) Milli-Q ultrafiltration water(UF);(2) Milli-Q reverse osmosis water(RO);(3) tap water(TAP). The objective was to evaluate the potential of quality control using ICR mouse 1-cell embryos. The more water was purified, the better embryo developments were supported and the less embryos were degenerated. As a quality control system, the culture of ICR 1-cell mouse embryos in CZB was useful.

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In situ culture and harvest of aminocytes using covership processing method

  • Cheong, Kyung-Soon;Hwang, Do-Yeong;Lee, Dong-Sook;Cho, Soo-Kyung;Kim, Ki-Chul;Min, Eung-Gi
    • Journal of Genetic Medicine
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    • v.2 no.2
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    • pp.79-81
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    • 1998
  • Genetic amniocenteses were performed in a series of 127 patients as a routine study. Samples from the patients were cultured by in situ method, flask method or both according to the state of amniotic fluid. The overall success rate of culture was 97.6% and no culture failure was observed in the flask method. It took 5 days first of all and 8.15 days average from set-up to harvest and there were 7.2 colonies per dish in in situ method. Therefore, it is suggested that in situ method which decreased the mean culture days and made clonal analyses possible, is a clinically available and even more reliable method in parallel with flask method in prenatal diagnosis.

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