Duplication 9q34-->qter identified by chromosome painting.

  title={Duplication 9q34-->qter identified by chromosome painting.},
  author={Nancy B. Spinner and J. N. Lucas and Marilyn Poggensee and M Jacquette and Anouck Schneider},
  journal={American journal of medical genetics},
  volume={45 5},
We have studied an infant with multiple anomalies and a 46,XY,12p+ karyotype. Parental chromosomes were normal, and it was not possible to determine the identity of the extra material on chromosome 12 cytogenetically. Chromosome painting with probes from a chromosome 9 library identified this material as coming from chromosome 9, and cytogenetics established the duplication as 9q34-->qter. Comparison of this patient with others reported with partial dup(9q) documented excellent concordance of… CONTINUE READING


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An 18-year follow-up report on an infant with a duplication of 9q34.

American journal of medical genetics. Part A • 2010
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