Familial inverted duplication 7p.
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.
Schaefer
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GB
Hattie B. Munroe Center for Human Genetics, Meyer Rehabilitation Institute, University of Nebraska Medical School, Omaha, USA.
Novak
K
K
Steele
D
D
Buehler
B
B
Smith
S
S
Zaleski
D
D
Pickering
D
D
Nelson
M
M
Sanger
W
W
D007446:Chromosome Inversion; D002897:Chromosomes, Human, Pair 7; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D010375:Pedigree