Prenatal diagnosis of hemivertebrae--A likely association with 7q deletion

Taiwan J Obstet Gynecol. 2016 Feb;55(1):112-6. doi: 10.1016/j.tjog.2015.05.004.

Abstract

Objective: This study aims to investigate the possible cause of a prenatal case of hemivertebrae with a 7q terminal deletion.

Case report: This case describes a fetus with hemivertebrae in thoracic vertebrae as the sole antenatal sonographic finding. Genetic testing was performed in order to find more information after the abnormal ultrasound finding. The array-based comparative genomic hybridization results showed that the fetus had approximately 6.4 Mb deletion of 7q36. We discussed the two genes (SHH and HLXB9) that may be associated with hemivertebrae in the deletion region and reviewed several literatures about 7q36 deletion.

Conclusion: Our results suggest that the phenotype of hemivertebra in our case may be related to the deletion of 7q36.

Keywords: 7q terminal deletion; hemivertebrae; prenatal diagnosis.

Publication types

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

MeSH terms

  • Adult
  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7*
  • Female
  • Fetal Diseases / diagnostic imaging
  • Fetal Diseases / genetics*
  • Hedgehog Proteins / genetics
  • Homeodomain Proteins / genetics
  • Humans
  • Karyotype
  • Pregnancy
  • Thoracic Vertebrae / abnormalities*
  • Thoracic Vertebrae / diagnostic imaging
  • Transcription Factors / genetics
  • Ultrasonography, Prenatal

Substances

  • Hedgehog Proteins
  • Homeodomain Proteins
  • MNX1 protein, human
  • SHH protein, human
  • Transcription Factors