Relatively mild phenotype in a patient with interstitial 6q24.3-q25.2 deletion.

Abstract excerpt

We report a patient with a de-novo interstitial deletion of chromosome 6 with breakpoints at q24.3-q25.2. The patient presented with intra-abdominal testes, mild dysmorphic features, feeding difficulties in the first 3 years of life and normal development with no learning difficulties. To our knowledge this is the first report of a 6q interstitial deletion with these particular breakpoints. This is also the first...

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