title: Prenatal diagnosis and molecular cytogenetic characterization of a de novo pure distal 9p deletion and literature review.
abstract: We present rapid aneuploidy diagnosis of distal 9p deletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with an abnormal maternal serum screening result and intrauterine growth restriction (IUGR) in the fetus. We review the literature of prenatal diagnosis of distal 9p deletion, and add abnormal maternal serum biochemistry and fetal IUGR in the distinctive prenatal findings in pregnancy with fetal distal 9p deletion. We discuss the consequence of haploinsufficiency of DOCK8, KANK1, VLDLR and DMRT1 in this case.
authors: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
authors: Chih-Ping
authors: CP
authors: Chen
authors: Yi-Ning
authors: YN
authors: Su
authors: Chen-Yu
authors: CY
authors: Chen
authors: Schu-Rern
authors: SR
authors: Chern
authors: Peih-Shan
authors: PS
authors: Wu
authors: Jun-Wei
authors: JW
authors: Su
authors: Chen-Chi
authors: CC
authors: Lee
authors: Li-Feng
authors: LF
authors: Chen
authors: Wayseen
authors: W
authors: Wang
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D000782:Aneuploidy; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis; D003598:Cytoskeletal Proteins; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D057895:Haploinsufficiency; D006801:Humans; D008875:Middle Aged; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011973:Receptors, LDL / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; C110547:DMRT1 protein; C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors; C467739:KANK1 protein, human; D011973:Receptors, LDL; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; C036053:VLDL receptor
keywords: Array comparative genomic hybridization; Distal 9p deletion; Maternal serum screening; Prenatal diagnosis