Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36

Am J Med Genet. 1991 Aug 1;40(2):201-5. doi: 10.1002/ajmg.1320400216.


A familial balanced t(7;9) (q36;q34) was reported recently. Analysis of the craniofacial features of 3 of the sibs showed signs of holoprosencephaly. Two of the sibs have an unbalanced derivative chromosome leading to del(7) (q36) and dup(9) (q34), while the other has a cytogenetically balanced translocation. These findings, together with several reports associating holoprosencephaly with terminal 7q deletions, indicate that a putative locus for holoprosencephaly resides at or near 7q36. It should now be feasible to clone this locus.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chromosome Deletion
  • Chromosomes, Human, Pair 7*
  • Chromosomes, Human, Pair 9*
  • Female
  • Holoprosencephaly / genetics*
  • Humans
  • Karyotyping
  • Male
  • Maxillofacial Development / genetics
  • Translocation, Genetic / genetics*