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Am J Med Genet. 1991 Jul 1;40(1):77-9.

Interstitial deletion of 4(q21q25) in a liveborn male.

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  • 1Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia 19104-4283.


We describe a liveborn male with a de novo deletion of 4(q21q25). The findings in this infant are compared with those of other 4q interstitial deletion patients with similar break-points. Given the reproducible findings including skull asymmetry, cardiac defects, renal cysts, "butterfly" vertebrae, as well as a particular dysmorphic face with developmental delay, there is evidence for an interstitial 4q deletion syndrome.

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