FAMILIAL INVERTED DUPLICATION 7P

A 10-month-old female with developmental delay and failure to thrive w as referred for genetic evaluation as part of an adoption assessment. Physical exam showed a mildly beaked nose and clinodactyly, but otherw ise nothing remarkable. Chromosome analysis showed an inverted duplica tion of the p12.2-->p13 portion of chromosome 7[:(46, XX, dup(7)(p13p1 2.2)]. The proposita's older brother, mother, and grandmother were cog nitively delayed and had the same chromosome 7 duplication. A review o f the literature showed no other cases involving this exact duplicatio n. (C) 1995 Wiley-Liss, Inc.