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

BAYRİ, YAŞAR; SÖYLEMEZ, BURÇAK; Seker, Askin; Yuksel, Sirin; TANRIKULU, BAHATTİN; ÜNVER, OLCAY; Canbolat, Cagri; SAKAR, MUSTAFA; Kardag, Ozen; Yakicier, Cengiz; Dagcinar, Adnan; Ziyal, Ibrahim; Bayrakli, Fatih

doi:10.1007/s00381-015-2753-z

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)

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

Abstract

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.