title: Prenatal diagnosis and molecular characterization of a novel locus for Dandy-Walker malformation on chromosome 7p21.3.
abstract: We present three foetuses with Dandy-Walker malformation, intra-uterine growth restriction and multiple congenital abnormalities, who were studied by array-based comparative genomic hybridization and revealed a novel locus on chromosome 7p21.3. The association of pure chromosome 7p aberrations with Dandy-Walker malformation has rarely been reported. The present study suggests that the critical region associated with Dandy-Walker malformation is restricted to 7p21.3, including the cerebellar disease associated genes NDUFA4 and PHF14.
authors.affiliation: Department of Medical Genetics and Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical College, Guangzhou, Guangdong 510623, China. canliao@hotmail.com
authors.forename: Can
authors.initials: C
authors.lastname: Liao
authors.forename: Fang
authors.initials: F
authors.lastname: Fu
authors.forename: Ru
authors.initials: R
authors.lastname: Li
authors.forename: Xin
authors.initials: X
authors.lastname: Yang
authors.forename: Qing
authors.initials: Q
authors.lastname: Xu
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000025:Abortion, Eugenic; D002869:Chromosome Aberrations; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D003616:Dandy-Walker Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D011247:Pregnancy; D016216:Ultrasonography, Prenatal