The Experts below are selected from a list of 9 Experts worldwide ranked by ideXlab platform
Li Yongquan - One of the best experts on this subject based on the ideXlab platform.
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Study on a Pedigree with 13/21 Robertsonian Chromosome Translocation Transmitted for Four Generations
1998Co-Authors: Li YongquanAbstract:A pedigree with 13/21 Robertsonian Translocation was reported. There were four carriers and three patients with Down′s syndrome in the padigree. The Robertsonian Chromosome Translocation had been transmitted at leart for four generations. A family aggregation of monozygotic twines was found in this pedigree too. The inheritance principle of Robertsonian Translocation was discussed and that the origin of monozygotic twins may be genetically involved were considered.
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study on a pedigree with 13 21 Robertsonian Chromosome Translocation transmitted for four generations
HEREDITAS(BEIJING), 1998Co-Authors: Li YongquanAbstract:A pedigree with 13/21 Robertsonian Translocation was reported. There were four carriers and three patients with Down′s syndrome in the padigree. The Robertsonian Chromosome Translocation had been transmitted at leart for four generations. A family aggregation of monozygotic twines was found in this pedigree too. The inheritance principle of Robertsonian Translocation was discussed and that the origin of monozygotic twins may be genetically involved were considered.
Jon S. Rosnes - One of the best experts on this subject based on the ideXlab platform.
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Rapid interphase analysis for prenatal diagnosis of Translocation carriers using subtelomeric probes.
Prenatal diagnosis, 2002Co-Authors: Mark J. Pettenati, Chris Von Kap-herr, Bethy Jackle, Peggy Bobby, Philip Mowrey, Stuart Schwartz, P. Nagesh Rao, Jon S. RosnesAbstract:Interphase fluorescence in situ hybridization (FISH) has become an accepted laboratory technique for the rapid and preliminary prenatal assessment of Chromosome aneuploidy. The introduction of subtelomeric FISH probes now allows for the molecular-cytogenetic analysis of terminal Chromosome rearrangements. In a prospective study, we examined the prenatal use of subtelomeric probes on interphase cells to rapidly detect the carrier status of a fetus when a parent carried a known reciprocal or Robertsonian Chromosome Translocation. Three of the cases were identified as being abnormal. All cases were confirmed by routine cytogenetic analysis. These findings clearly demonstrated the utility of this technique and these probes to rapidly and correctly identify balanced and unbalanced Chromosome anomalies of a fetus that could result from parental Translocations.
Mark J. Pettenati - One of the best experts on this subject based on the ideXlab platform.
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Rapid interphase analysis for prenatal diagnosis of Translocation carriers using subtelomeric probes.
Prenatal diagnosis, 2002Co-Authors: Mark J. Pettenati, Chris Von Kap-herr, Bethy Jackle, Peggy Bobby, Philip Mowrey, Stuart Schwartz, P. Nagesh Rao, Jon S. RosnesAbstract:Interphase fluorescence in situ hybridization (FISH) has become an accepted laboratory technique for the rapid and preliminary prenatal assessment of Chromosome aneuploidy. The introduction of subtelomeric FISH probes now allows for the molecular-cytogenetic analysis of terminal Chromosome rearrangements. In a prospective study, we examined the prenatal use of subtelomeric probes on interphase cells to rapidly detect the carrier status of a fetus when a parent carried a known reciprocal or Robertsonian Chromosome Translocation. Three of the cases were identified as being abnormal. All cases were confirmed by routine cytogenetic analysis. These findings clearly demonstrated the utility of this technique and these probes to rapidly and correctly identify balanced and unbalanced Chromosome anomalies of a fetus that could result from parental Translocations.
Chris Von Kap-herr - One of the best experts on this subject based on the ideXlab platform.
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Rapid interphase analysis for prenatal diagnosis of Translocation carriers using subtelomeric probes.
Prenatal diagnosis, 2002Co-Authors: Mark J. Pettenati, Chris Von Kap-herr, Bethy Jackle, Peggy Bobby, Philip Mowrey, Stuart Schwartz, P. Nagesh Rao, Jon S. RosnesAbstract:Interphase fluorescence in situ hybridization (FISH) has become an accepted laboratory technique for the rapid and preliminary prenatal assessment of Chromosome aneuploidy. The introduction of subtelomeric FISH probes now allows for the molecular-cytogenetic analysis of terminal Chromosome rearrangements. In a prospective study, we examined the prenatal use of subtelomeric probes on interphase cells to rapidly detect the carrier status of a fetus when a parent carried a known reciprocal or Robertsonian Chromosome Translocation. Three of the cases were identified as being abnormal. All cases were confirmed by routine cytogenetic analysis. These findings clearly demonstrated the utility of this technique and these probes to rapidly and correctly identify balanced and unbalanced Chromosome anomalies of a fetus that could result from parental Translocations.
Bethy Jackle - One of the best experts on this subject based on the ideXlab platform.
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Rapid interphase analysis for prenatal diagnosis of Translocation carriers using subtelomeric probes.
Prenatal diagnosis, 2002Co-Authors: Mark J. Pettenati, Chris Von Kap-herr, Bethy Jackle, Peggy Bobby, Philip Mowrey, Stuart Schwartz, P. Nagesh Rao, Jon S. RosnesAbstract:Interphase fluorescence in situ hybridization (FISH) has become an accepted laboratory technique for the rapid and preliminary prenatal assessment of Chromosome aneuploidy. The introduction of subtelomeric FISH probes now allows for the molecular-cytogenetic analysis of terminal Chromosome rearrangements. In a prospective study, we examined the prenatal use of subtelomeric probes on interphase cells to rapidly detect the carrier status of a fetus when a parent carried a known reciprocal or Robertsonian Chromosome Translocation. Three of the cases were identified as being abnormal. All cases were confirmed by routine cytogenetic analysis. These findings clearly demonstrated the utility of this technique and these probes to rapidly and correctly identify balanced and unbalanced Chromosome anomalies of a fetus that could result from parental Translocations.
