Duplication of 16q22→qter confirmed by fluorescence in situ hybridisation and molecular analysis

Abstract

We report a female infant with congenital dislocation of the knee and dysmorphic features including a prominent forehead, midface hypoplasia, and micrognathia. Fluorescence in situ hybridisation and PCR amplification of microsatellite repeats were used to show that she had a de novo unbalanced translocation resulting in partial trisomy for 16q and partial monosomy for 15q (46,XX,-15, tder(15)t(15;16)(q26.1;q22). The consequences of partial aneuploidy of 16q are discussed.