title: Prenatal central nervous system anomaly with skeletal dysplasia associated with a de novo interstitial tandem triplication of chromosome 14.
authors.affiliation: a West Midlands Regional Genetics Laboratory , Birmingham Women's NHS Foundation Trust , Birmingham , UK.
authors.forename: Georgina K
authors.initials: GK
authors.lastname: Hall
authors.affiliation: b Fetal Medicine Centre, Birmingham Women's NHS Foundation Trust , Birmingham , UK.|c Centre for Women's and Children's Health , University of Birmingham , Birmingham , UK.
authors.forename: Fiona L
authors.initials: FL
authors.lastname: Mackie
authors.affiliation: d Department of Radiology , Birmingham Children's NHS Foundation Trust , Birmingham , UK.
authors.forename: Helen
authors.initials: H
authors.lastname: Williams
authors.affiliation: e Department of Clinical Genetics , Birmingham Women's NHS Foundation Trust , Birmingham , UK.
authors.forename: Denise
authors.initials: D
authors.lastname: Williams
authors.affiliation: f Department of Perinatal Pathology , Birmingham Women's NHS Foundation Trust , Birmingham , UK.
authors.forename: Phillip
authors.initials: P
authors.lastname: Cox
authors.affiliation: a West Midlands Regional Genetics Laboratory , Birmingham Women's NHS Foundation Trust , Birmingham , UK.
authors.forename: Dominic J
authors.initials: DJ
authors.lastname: McMullan
authors.affiliation: a West Midlands Regional Genetics Laboratory , Birmingham Women's NHS Foundation Trust , Birmingham , UK.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Allen
authors.affiliation: b Fetal Medicine Centre, Birmingham Women's NHS Foundation Trust , Birmingham , UK.|c Centre for Women's and Children's Health , University of Birmingham , Birmingham , UK.
authors.forename: Mark D
authors.initials: MD
authors.lastname: Kilby
mesh_terms: D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology; D002869:Chromosome Aberrations; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D000013:Congenital Abnormalities / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D006801:Humans; D008297:Male; D010154:Pakistan / Q000208:ethnology; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D046888:Tissue Array Analysis; D016216:Ultrasonography, Prenatal