title: Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization.
abstract: We present rapid aneuploidy diagnosis of ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions by aCGH using uncultured amniocytes in a fetus with IUGR, microcephaly, lissencephaly and ambiguous external genitalia. Our case adds lissencephaly to the list of CNS abnormalities in ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions. We discuss the consequence of haploinsufficiency of HDAC4, KIF1A, PASK, HDLBP, FRAP2 and D2HGDH on 2q37.3, and haploinsufficiency of MYT1L, SNTG2 and TPO on 2p25.3 in this case.
authors: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, and Institute of Clinical and Community Health Nursing, Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. cpc_mmh@yahoo.com
authors: Chih-Ping
authors: CP
authors: Chen
authors: Chen-Ju
authors: CJ
authors: Lin
authors: Tung-Yao
authors: TY
authors: Chang
authors: Schu-Rern
authors: SR
authors: Chern
authors: Peih-Shan
authors: PS
authors: Wu
authors: Yu-Ting
authors: YT
authors: Chen
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: D000328:Adult; D000782:Aneuploidy; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000295:instrumentation / Q000379:methods*; D020732:Cytogenetic Analysis; D005260:Female; D056726:Genetic Association Studies; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D054082:Lissencephaly / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012303:Ring Chromosomes
chemical_list: D005819:Genetic Markers