title: Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes.
abstract: We present prenatal diagnosis of a de novo distal 18p deletion involving 14.06Mb at 18p11.32-p11.21 by aCGH using uncultured amniocytes in a pregnancy with fetal holoprosencephaly and premaxillary agenesis. QF-PCR analysis showed that distal 18p deletion was from maternal origin. Metaphase FISH analysis confirmed haploinsufficiency of TGIF. We discuss the functions of the genes that are deleted within this region. The present case shows the usefulness of applying aCGH on uncultured amniocytes for rapid aneuploidy diagnosis in cases with prenatally detected fetal structural abnormalities.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Jian-Pei
authors.initials: JP
authors.lastname: Huang
authors.forename: Yi-Yung
authors.initials: YY
authors.lastname: Chen
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.forename: Peih-Shan
authors.initials: PS
authors.lastname: Wu
authors.forename: Jun-Wei
authors.initials: JW
authors.lastname: Su
authors.forename: Chen-Wen
authors.initials: CW
authors.lastname: Pan
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000328:Adult; D000650:Amnion / Q000166:cytology*; D000848:Anodontia / Q000235:genetics*; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D055028:Comparative Genomic Hybridization; D005260:Female; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome
keywords: 18p deletion syndrome; Array comparative genomic hybridization; BAC; Bacterial artificial chromosome; CNS; Central nervous system; Deletion; FISH; Fluorescence in situ hybridization; HPE; Holoprosencephaly; OMIM; Online Mendelian Inheritance in Man; PMA; Premaxillary agenesis; Prenatal diagnosis; QF-PCR; Quantitative fluorescent polymerase chain reaction; STRs; Short tandem repeats; TGIF; aCGH; del