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Keywords:

  • del(4)(q31.3-32.1);
  • speech delay;
  • SNPs-Array;
  • TDO2;
  • dysfibrinogenemia

Abstract

Deletion of the terminal part of long arm of chromosome 4 is a condition characterized by facial dysmorphisms, cardiac and limb defects, and developmental delay. Deletions usually involve the terminal part of the chromosome and most frequently are interstitial. Here, we report a de novo interstitial deletion resulting in a microdeletion of 6.9 Mb involving 4q31.3-q32.1 segment, detected by SNPs-Array technique in a 4-year-old female showing severe speech delay, mild facial dysmorphisms, and joint laxity. Phenotype–genotype relationships looking at the genes involved in this part of the chromosome were also carried out and data compared with those previously described. © 2012 Wiley Periodicals, Inc.