Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31

BAYRİ Y., SÖYLEMEZ B., Seker A., Yuksel S., TANRIKULU B. , ÜNVER O., ...More

CHILDS NERVOUS SYSTEM, vol.31, no.8, pp.1367-1370, 2015 (Journal Indexed in SCI) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31 Issue: 8
  • Publication Date: 2015
  • Doi Number: 10.1007/s00381-015-2753-z
  • Title of Journal : CHILDS NERVOUS SYSTEM
  • Page Numbers: pp.1367-1370
  • Keywords: Meningomyelocele, Neural tube defects, Whole genome linkage analysis, Chromosome, LOD score, IDENTIFICATION, GENETICS


Meningomyelocele is one of the most common and socioeconomically, psychologically, and physically debilitating neurodevelopmental diseases. A few chromosomal locus and genes have been identified as responsible for the disease; however, clear evidence still needs to be produced. This study aimed to show evidence of a strong genetic linkage in a novel chromosomal locus in a family with this neural tube defect.