Familial inverted duplication 7p

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosome Inversion*
  • Chromosomes, Human, Pair 7*
  • Developmental Disabilities / genetics*
  • Female
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Karyotyping
  • Pedigree