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  • Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.

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Research Article
Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.
  1. A Schinzel,
  2. F Binkert,
  3. D M Lillington,
  4. M Sands,
  5. R J Stocks,
  6. R H Lindenbaum,
  7. H Matthews,
  8. H Sheridan
  1. Institute of Medical Genetics, University of Zürich, Switzerland.

    Abstract

    We describe three unrelated patients with apparently identical interstitial deletions of the segment (18) (q12.2q21.1). They were a short and markedly mentally retarded 5 year old girl, a macrocephalic and obese 2 1/2 year old boy with moderate mental retardation, and a macrocephalic, severely mentally retarded 5 year old boy. Findings common to all five liveborn patients so far identified as carrying this deletion include a pattern of minor dysmorphic features (prominent forehead, ptosis of the upper eyelids, full periorbital tissue, epicanthic folds, strabismus), muscular hypotonia, seizures, behavioural disorders, and lack of major malformations.

    https://doi.org/10.1136/jmg.28.5.352

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