De novo duplication (5)(q31.3q33.3): Report of a patient and characterization of the duplicated region using microdissection and FISH

We report on a 2-year-old boy presenting with growth and psychomotor retard ation and facial anomalies, including a hat face with prominent forehead, a flat nasal bridge and hat occiput, unusually long curved eyelashes, and a thin upper lip with down-turned corners of the mouth. Analysis of GTG-bande d chromosomes demonstrated that the patient had extra chromosomal material in the long arm of one chromosome 5. This chromosome aberration was charact erized further using microdissection and FISH with band-specific probes and a de novo direct duplication (5)(q31.3q33.3) was shown to be present. We h ave compared this case with others known to be partially trisomic for chrom osome 5q reported in the literature. (C) 2001 Wiley-Liss, Inc.