title: Recurrent neural tube defects associated with partial trisomy 2p22-pter: report of two siblings and review of the literature.
abstract: We report on two male siblings with partial trisomy 2p22-pter and partial monosomy 15q26-qter resulting from a maternally derived translocation t(2;15)(p22;q26). Both fetuses had different neural tube defects (craniorachischisis in the first fetus and anencephaly in the second fetus) which were detected by sonographic examination at the end of the first trimester of pregnancy. This report demonstrates the importance of chromosomal analysis in the etiologic exploration of neural tube defects and supports the importance of 2p24 triplication in neural tube development.
authors.affiliation: Laboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, France. berenice.doray@club-internet.fr
authors.forename: B
authors.initials: B
authors.lastname: Doray
authors.forename: R
authors.initials: R
authors.lastname: Favre
authors.forename: B
authors.initials: B
authors.lastname: Gasser
authors.forename: F
authors.initials: F
authors.lastname: Girard-Lemaire
authors.forename: C
authors.initials: C
authors.lastname: Schluth
authors.forename: E
authors.initials: E
authors.lastname: Flori
mesh_terms: D000757:Anencephaly / Q000000981:diagnostic imaging; D015193:Chorionic Villi Sampling / Q000379:methods; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D009006:Monosomy / Q000235:genetics*; D009436:Neural Tube Defects / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D011248:Pregnancy Complications; D012008:Recurrence; D035781:Siblings; D014314:Trisomy / Q000235:genetics*; D014463:Ultrasonography