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The trisomy (5)(q31-qter) syndrome: study of a family with a t(5:14) translocation.
  1. A C Elias-Jones,
  2. P Habibi,
  3. V F Larcher,
  4. T Spencer,
  5. L J Butler
  1. Department of Paediatrics, Queen Elizabeth Hospital for Children, London.


    We report a child with multiple malformations caused by trisomy for the distal part of the long arm of chromosome No 5. A neonatal diagnosis of Down's syndrome had previously been made on the basis of clinical examination and the detection of an additional chromosome not unlike No 21. A subsequent clinical re-evaluation, with the cooperation of the parents who permitted further studies, led to the confirmation of the true diagnosis. The mother was the carrier of a balanced translocation between chromosome No 5 and No 14. The child had severe growth and psychomotor retardation and characteristic features: microcephaly, antimongoloid slant, epicanthus, low set ears, down-turned mouth, and long upper lip. She was hypertonic and a congenital heart disease (atrial septal defect) was present. We have compared this case with others known to be trisomic for segment 5q31-qter.

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