Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito.

@article{Sybert1990PigmentaryAA,
  title={Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito.},
  author={Virginia P. Sybert and Roberta A. Pagon and M Andrew Donlan and Catherine M. Bradley},
  journal={The Journal of pediatrics},
  year={1990},
  volume={116 4},
  pages={
          581-6
        }
}
Thirteen patients with hypopigmentation of the skin characteristic of hypomelanosis of Ito, and with developmental disabilities or structural malformations, or both, were examined at our center. Eight were found to have abnormal karyotypes in lymphocytes, fibroblasts, or both. No single clinical feature was predictive of chromosome imbalance in this group of patients. Cytogenetic findings included a balanced de novo X-autosome translocation; ring 10; 45,X/46,X,+ring; mosaic del 13q11… CONTINUE READING

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