Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7)

We present two brothers with mental retardation, seizures disorder, general ized muscular hypertonia, kyphoscoliosis, minor anomalies and a prominent m idface. GTG-banded chromosome analysis showed a derivative chromosome 14 wi thout clues toward the origin of the rearrangement. Microdissection of the derivative chromosome 14 and subsequent reverse painting demonstrated parti al trisomy 7q32-q34 as the unbalanced product of a maternal. insertion (14; 7), Thus, we identified two cases with pure trisomy 7q32-q34 that allowed f urther delineation of this aneusomy syndrome. (C) 2000 Wiley-Liss, Inc.