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Familial inverted duplication 7p
G B Schaefer1, K Novak, D Steele
1Hattie B. Munroe Center for Human Genetics, Meyer Rehabilitation Institute, University of Nebraska Medical School, Omaha, USA.
American Journal of Medical Genetics
|March 27, 1995
Abstract:
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.