| Literature DB >> 23850725 |
Chih-Ping Chen1, Jian-Pei Huang, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Chen-Wen Pan, Wayseen Wang.
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.Entities:
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
Mesh：
Year: 2013 PMID： 23850725 DOI： 10.1016/j.gene.2013.06.081
Source DB: PubMed Journal: Gene ISSN： 0378-1119 Impact factor: 3.688