INVERTED DUPLICATION OF CHROMOSOME-5P14P15.3 CONFIRMED WITH IN-SITU HYBRIDIZATION

Duplication of the short arm of chromosome 5 [dup(5)(p13.1p15.3)] has been associated with craniofacial malformations, cardiac defects, rena l and intestinal malformations, limb abnormalities, and mental retarda tion. We report a 2-year-old white girl with a de novo 46,XX,inv dup(5 )(p14p15.3) chromosome constitution, who presented with motor and lang uage delays, bilateral strabismus, small posteriorly angulated ears, a high-arched palate, mild hypotonia, and an atrial septal defect. A CT scan of the head was normal. In situ hybridization with a cosmid prob e specific for sub-band 5p15.3 (Oncor, Inc., Gaithersburg, MD) was use d to identify the origin and orientation of the extra material. The mi lder manifestations in our patient are consistent with the hypothesis that significant phenotypic effects are associated with duplication of material proximal to band 5p14. This study demonstrates the usefulnes s of in situ probes in identifying the origin and orientation of dupli cated genetic material. (C) 1993 Wiley-Liss, Inc.