title: Familial inverted duplication 7p.
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.
authors.affiliation: Hattie B. Munroe Center for Human Genetics, Meyer Rehabilitation Institute, University of Nebraska Medical School, Omaha, USA.
authors.forename: G B
authors.initials: GB
authors.lastname: Schaefer
authors.forename: K
authors.initials: K
authors.lastname: Novak
authors.forename: D
authors.initials: D
authors.lastname: Steele
authors.forename: B
authors.initials: B
authors.lastname: Buehler
authors.forename: S
authors.initials: S
authors.lastname: Smith
authors.forename: D
authors.initials: D
authors.lastname: Zaleski
authors.forename: D
authors.initials: D
authors.lastname: Pickering
authors.forename: M
authors.initials: M
authors.lastname: Nelson
authors.forename: W
authors.initials: W
authors.lastname: Sanger
mesh_terms: 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