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A constitutional 5q23 deletion.
  1. H Rivera,
  2. P Simi,
  3. S Rossi,
  4. L Pardelli,
  5. M C Di Paolo
  1. Biologia Generale e Genetica Medica, Università di Pavia, Italy.

    Abstract

    A 14 month old girl was found to have a deletion of the whole of band 5q23. By comparing 19 other cases monosomic for a part of the 5q13-q31 segment, the constitutional 5q interstitial deletions fall into two groups: adult patients with Gardner-like symptoms and mental retardation associated with deletion 5q21-q22, and patients (mostly children) with unspecific signs and symptoms and different deletions.

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