Craniosynostosis associated with partial duplication of 15q and deletion of 2q

Am J Med Genet. 1992 Jul 1;43(4):688-92. doi: 10.1002/ajmg.1320430407.

Abstract

We report on an infant with multiple congenital anomalies including complex craniosynostosis associated with an unbalanced karyotype, 46,XY,-2,+der(2),t(2;15)(q37;q26)pat. The previous report of a child with cloverleaf skull and partial duplication of 15q25----qter and the Man-on-Mouse Homology map suggests that a critical segment for synostosis of sutures may be in this region.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cesarean Section
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, Pair 2*
  • Craniosynostoses / diagnostic imaging
  • Craniosynostoses / genetics*
  • Humans
  • Infant
  • Male
  • Radiography
  • Skull / diagnostic imaging
  • Translocation, Genetic*