Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl.

@article{Kumar1999MolecularCO,
  title={Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl.},
  author={Aryavarta M S Kumar and Suzanne B. Cassidy and Lina T Romero and Stuart Schwartz},
  journal={American journal of medical genetics},
  year={1999},
  volume={86 3},
  pages={227-31}
}
Using fluorescence in situ hybridization and microsatellite analysis, we have characterized a de novo interstitial deletion on the long arm of chromosome 6 [46,XX,del(6) (q23.3q24.2)] in a developmentally normal girl with very mild phenotypic abnormalities. The deletion was paternal in origin and was between markers WI-5023 and D6S1042. The size of the deletion was estimated to be approximately 4-5 Mb. The normal phenotype in this patient might be the result of imprinting of paternal copies of… CONTINUE READING
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