Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly

• Published in: American journal of medical genetics Vol. 87; no. 1; p. 45
• Main Authors: Hahm, G K, Barth, R F, Schauer, G M, Reiss, R, Opitz, J M
• Format: Journal Article
• Language: English
• Published: United States 05.11.1999
• Subjects: Abortion, Eugenic; Adolescent; Anencephaly - genetics; Anencephaly - pathology; Chromosomes, Human, Pair 2 - genetics; Fatal Outcome; Female; Fetal Death; Fetus - abnormalities; Gestational Age; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Male; Polydactyly - genetics; Polydactyly - pathology; Pregnancy; Syndrome; Trisomy
• ISSN: 0148-7299
• DOI: 10.1002/(SICI)1096-8628(19991105)87:1<45::AID-AJMG9>3.0.CO;2-V

We report on a male fetus with partial trisomy 2p21-2pter and monosomy 15q26-15qter due to t(2,15)(p21;q26). This fetus had a typical trisomy 2p phenotype including minor facial anomalies, musculoskeletal defects and two unusual findings: polydactyly and anencephaly. The observation of anencephaly adds support to the theory that genetic material mapping to chromosome band 2p24 is involved in neural tube development. In addition, we propose that a gene on 2p23 may play a role in the morphogenetic patterning of hands and feet.