Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.

@article{Zori1993ClinicalCA,
  title={Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.},
  author={Roberto Zori and James R Lupski and Z Heju and Frank Greenberg and James M. Killian and Brian A Gray and Daniel J. Driscoll and Pragna I. Patel and J L Zackowski},
  journal={American journal of medical genetics},
  year={1993},
  volume={47 4},
  pages={504-11}
}
We describe an infant with del(17) (p11.2p12) whose deleted chromosome was inherited from a mosaic mother. The child had manifestations consistent with Smith-Magenis syndrome. The mother appeared to be of normal intelligence and she had minimal findings of Smith-Magenis syndrome. Separation of chromosome 17 homologues in somatic cell hybrids and molecular studies confirmed the cytogenetic diagnoses and the fact that the mother was mosaic. Furthermore, molecular analysis demonstrated novel… CONTINUE READING
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