Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2)

Am J Med Genet. 1997 Dec 19;73(3):244-6. doi: 10.1002/(sici)1096-8628(19971219)73:3<244::aid-ajmg2>3.0.co;2-s.

Abstract

We report on an 8-year-old girl with congenital scoliosis (segmented hemivertebra between the second and third lumbar vertebrae) and psychomotor developmental delay. She has a de novo reciprocal translocation, t(13;17)(q34;p11.2). Congenital scoliosis is one type of structural spine deformation and hemivertebra is the most common anomaly causing congenital scoliosis. The cause and the mode of inheritance of hemivertebrae are unknown. Our patient has a de novo balanced chromosome aberration and retains two copies of the LLGL gene, which is usually lacking in patients with Smith-Magenis syndrome (SMS). Since some SMS patients who showed a deletion at 17p11.2 had congenital scoliosis, it is likely that one (17p11.2) of the breakpoints in our patient is a candidate region for a hemivertebra locus.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosomes, Human, Pair 13 / genetics*
  • Chromosomes, Human, Pair 17 / genetics*
  • Female
  • Humans
  • Karyotyping
  • Lumbar Vertebrae / abnormalities
  • Lumbar Vertebrae / diagnostic imaging
  • Radiography
  • Scoliosis / diagnostic imaging
  • Scoliosis / genetics*
  • Translocation, Genetic*