Schaefer G B, Novak K, Steele D, Buehler B, Smith S, Zaleski D, Pickering D, Nelson M, Sanger W
Hattie B. Munroe Center for Human Genetics, Meyer Rehabilitation Institute, University of Nebraska Medical School, Omaha, USA.
Am J Med Genet. 1995 Mar 27;56(2):184-7. doi: 10.1002/ajmg.1320560214.
A 10-month-old female with developmental delay and failure to thrive was referred for genetic evaluation as part of an adoption assessment. Physical exam showed a mildly beaked nose and clinodactyly, but otherwise nothing remarkable. Chromosome analysis showed an inverted duplication of the p12.2-->p13 portion of chromosome 7[(46,XX, dup(7)(p13p12.2)]. The proposita's older brother, mother, and grandmother were cognitively delayed and had the same chromosome 7 duplication. A review of the literature showed no other cases involving this exact duplication.
