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J Med Genet 1994;31:647-648 doi:10.1136/jmg.31.8.647
  • Research Article

Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).

  1. J Wolstenholme,
  2. J Brown,
  3. K G Masters,
  4. C Wright,
  5. C J English
  1. Department of Human Genetics, University of Newcastle upon Tyne, UK.

      Abstract

      A case of blepharophimosis, ptosis, and epicanthus inversus (BPES) associated with prenatally diagnosed diaphragmatic hernia and interstitial deletion of the long arm of chromosome 3, del(3)(q21q23), is reported. Comparison with other cases of BPES resulting from 3q rearrangements indicate that this disorder, previously assigned to 3q2, can now be more accurately mapped to 3q23.

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