EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations

Clin Genet. 1991 Sep;40(3):202-6. doi: 10.1111/j.1399-0004.1991.tb03077.x.


Familial cases (a grandfather, a father and a daughter) of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) are reported. All of them have a balanced reciprocal translocation (46,XY or XX, t(7;9) (q11.21;p12) or (46,XY or XX, t(7;9) (p11.2;q12)), but no other members of the family have either the EEC syndrome or chromosome abnormalities. This indicates that one of the chromosome sites 7q11.21, 9p12, 7p11.2 and 9q12 is a candidate for gene locus of the EEC syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Chromosomes, Human, Pair 7
  • Chromosomes, Human, Pair 9
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Ectoderm / physiology*
  • Female
  • Fingers / abnormalities*
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Pedigree
  • Syndrome
  • Toes / abnormalities*
  • Translocation, Genetic / genetics*