A Dufke

Summary

Country: Germany

Publications

  1. ncbi Hydrops fetalis in three male fetuses of a female with incontinentia pigmenti
    A Dufke
    Institute of Anthropology and Human Genetics, Division of Medical Genetics, University of Tubingen, Wilhelmstrasse 27, 72074 Tubingen, Germany
    Prenat Diagn 21:1019-21. 2001
  2. ncbi Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome
    A Dufke
    Division of Medical Genetics, University of Tubingen, Tubingen, Germany
    Cytogenet Cell Genet 91:81-4. 2000
  3. ncbi A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p)
    A Dufke
    Division of Medical Genetics, University of Tubingen, Tubingen, Germany
    Cytogenet Cell Genet 91:85-9. 2000
  4. ncbi Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker
    A Dufke
    Abteilung Medizinische Genetik, Klinikum der Eberhard Karls Universität Tübingen, Germany
    Eur J Hum Genet 9:572-6. 2001
  5. ncbi Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t(17;22)(q24.2;q11.23)
    A Dufke
    Division of Medical Genetics, University of Tubingen, Tubingen, Germany
    Cytogenet Cell Genet 93:168-70. 2001
  6. ncbi De novostructural chromosomal imbalances: molecular cytogenetic characterization of partial trisomies
    A Dufke
    Department of Medical Genetics, Eberhard Karls University, Tuebingen, Germany
    Cytogenet Genome Res 114:342-50. 2006
  7. ncbi Dominant transmission of prepubertal gynecomastia due to serum estrone excess: hormonal, biochemical, and genetic analysis in a large kindred
    G Binder
    Pediatric Endocrinology Section, University Children s Hospital, Hoppe Seyler Str 1, 72076 Tuebingen, Germany
    J Clin Endocrinol Metab 90:484-92. 2005
  8. ncbi Mosaic trisomy 21/monosomy 21 in a living female infant
    H P Nguyen
    Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany
    Cytogenet Genome Res 125:26-32. 2009
  9. ncbi A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13-->q24.1 and partial monosomy 4q27-->q28 [corrected]
    U Grasshoff
    Department of Medical Genetics, , , Germany
    Cytogenet Genome Res 103:17-23. 2003
  10. ncbi Tall stature, gonadal dysgenesis, and stigmata of Turner's syndrome caused by a structurally altered X chromosome
    G Binder
    University-Children's Hospital and Growth Research Center, , Germany
    J Pediatr 138:285-7. 2001

Collaborators

Detail Information

Publications12

  1. ncbi Hydrops fetalis in three male fetuses of a female with incontinentia pigmenti
    A Dufke
    Institute of Anthropology and Human Genetics, Division of Medical Genetics, University of Tubingen, Wilhelmstrasse 27, 72074 Tubingen, Germany
    Prenat Diagn 21:1019-21. 2001
    ..We describe a family who had a girl with clinical signs of IP after three consecutive miscarriages of three male fetuses due to HF...
  2. ncbi Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome
    A Dufke
    Division of Medical Genetics, University of Tubingen, Tubingen, Germany
    Cytogenet Cell Genet 91:81-4. 2000
    ..In this paper we evaluate three WHS patients showing a microdeletion of 4p and remarkable development with respect to the clinical spectrum of WHS...
  3. ncbi A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p)
    A Dufke
    Division of Medical Genetics, University of Tubingen, Tubingen, Germany
    Cytogenet Cell Genet 91:85-9. 2000
    ..The high frequency of recombinants in this family and others suggests a high recurrence risk in similar cases with large pericentric inversions comprising almost entire chromosomes...
  4. ncbi Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker
    A Dufke
    Abteilung Medizinische Genetik, Klinikum der Eberhard Karls Universität Tübingen, Germany
    Eur J Hum Genet 9:572-6. 2001
    ..Molecular genetic studies indicated that this marker is of paternal origin. The finding of partial tetrasomy 12pter-12p12.3 in our PKS patient allows to narrow down the critical region for PKS...
  5. ncbi Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t(17;22)(q24.2;q11.23)
    A Dufke
    Division of Medical Genetics, University of Tubingen, Tubingen, Germany
    Cytogenet Cell Genet 93:168-70. 2001
    ..We propose hidden mosaicism as a possible cause for MR/CM in patients who apparently carry a balanced familial reciprocal translocation...
  6. ncbi De novostructural chromosomal imbalances: molecular cytogenetic characterization of partial trisomies
    A Dufke
    Department of Medical Genetics, Eberhard Karls University, Tuebingen, Germany
    Cytogenet Genome Res 114:342-50. 2006
    ..31 combined with a terminal deletion of 18p32. The clinical pictures are compared with previously described patients with focus on long term outcome...
  7. ncbi Dominant transmission of prepubertal gynecomastia due to serum estrone excess: hormonal, biochemical, and genetic analysis in a large kindred
    G Binder
    Pediatric Endocrinology Section, University Children s Hospital, Hoppe Seyler Str 1, 72076 Tuebingen, Germany
    J Clin Endocrinol Metab 90:484-92. 2005
    ..In women, this mode of aromatase excess may remain clinically inapparent...
  8. ncbi Mosaic trisomy 21/monosomy 21 in a living female infant
    H P Nguyen
    Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany
    Cytogenet Genome Res 125:26-32. 2009
    ..This suggests a dominant phenotypic effect of loss of one chromosome 21. Detailed clinical description, results of gene dosage studies, and cytogenetic analysis will be presented...
  9. ncbi A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13-->q24.1 and partial monosomy 4q27-->q28 [corrected]
    U Grasshoff
    Department of Medical Genetics, , , Germany
    Cytogenet Genome Res 103:17-23. 2003
    ..In eight of these families normal offspring have been reported. We propose that exceptional CCRs in fertile male carriers might form comparatively simple pachytene configurations increasing the chance of healthy offspring...
  10. ncbi Tall stature, gonadal dysgenesis, and stigmata of Turner's syndrome caused by a structurally altered X chromosome
    G Binder
    University-Children's Hospital and Growth Research Center, , Germany
    J Pediatr 138:285-7. 2001
    ..We suggest that triple gene dosage of SHOX and estrogen deficiency caused the unique overgrowth...
  11. ncbi Specific transcriptional changes in human fetuses with autosomal trisomies
    O Altug Teber
    Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany
    Cytogenet Genome Res 119:171-84. 2007
    ..In contrast, in trisomy 18 vigorous downstream transcriptional changes were found. Global transcriptome analysis for autosomal trisomies 13, 18, and 21 supported a combination of the two major hypotheses...
  12. ncbi Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 new cases and a review of the literature
    T Liehr
    Institut fur Humangenetik und Anthropologie, Jena, Germany
    Sex Dev 1:353-62. 2007
    ..Thus, more cases with detailed (molecular) cytogenetic marker chromosome characterization are needed to provide information on formation and effects of an sSMC(T)...