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Research Article
De novo interstitial deletion del(1)(p21p32).
  1. M Bene,
  2. A Duca-Marinescu,
  3. D Ioan,
  4. C Maximilian

    Abstract

    A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1)(qter to p22::p32 to pter).

    https://doi.org/10.1136/jmg.16.4.323

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