|
|||||
|
|
Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: Prenatal diagnosis and aCGH characterization using uncultured amniocytes |
|
| Authors: | Chih-Ping Chen Jian-Pei Huang Yi-Yung Chen Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Chen-Wen Pan Wayseen Wang |
| Affiliation: | 1. Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan;2. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan;3. Department of Medicine, Mackay Medical College, New Taipei City, Taiwan;4. Department of Biotechnology, Asia University, Taichung, Taiwan;5. School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan;6. Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan;g Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan;h Mackay Medicine, Nursing and Management College, Taipei, Taiwan;i Gene Biodesign Co. Ltd., Taipei, Taiwan;j Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan;k Department of Bioengineering, Tatung University, Taipei, Taiwan |
| Abstract: | We present prenatal diagnosis of a de novo distal 18p deletion involving 14.06 Mb 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. |
| Keywords: | aCGH, Array comparative genomic hybridization HPE, Holoprosencephaly del, Deletion PMA, Premaxillary agenesis OMIM, Online Mendelian Inheritance in Man FISH, Fluorescence in situ hybridization BAC, Bacterial artificial chromosome QF-PCR, Quantitative fluorescent polymerase chain reaction STRs, Short tandem repeats CNS, Central nervous system |
| 本文献已被 ScienceDirect 等数据库收录！ | |