title: Prenatal diagnosis of de novo interstitial deletions involving 5q23.1-q23.3 and 18q12.1-q12.3 by array CGH using uncultured amniocytes in a pregnancy with fetal interrupted aortic arch and atrial septal defect.
abstract: We present prenatal diagnosis of de novo interstitial deletions involving 5q23.1-q23.3 and 18q12.1-q12.3 by aCGH using uncultured amniocytes in pregnancy with interrupted aortic arch and atrial septal defect in a fetus. The fetus postnatally manifested facial dysmorphisms and long slender fingers. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of FBN2, DTNA and CELF4 in this case.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City, 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.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Ming-Chao
authors.initials: MC
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: Yu-Ting
authors.initials: YT
authors.lastname: Chen
authors.forename: Jun-Wei
authors.initials: JW
authors.lastname: Su
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000328:Adult; D000650:Amnion / Q000378:metabolism / Q000473:pathology*; D001013:Aorta, Thoracic / Q000002:abnormalities* / Q000473:pathology; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis / Q000379:methods; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017384:Sequence Deletion; D013048:Specimen Handling
keywords: 18q12.1–q12.3 deletion; 5q23.1–q23.3 deletion; Atrial septal defect; BAC; FISH; Interrupted aortic arch; NCBI; National Center for Biotechnology Information; OMIM; Online Mendelian Inheritance in Man; QF-PCR; aCGH; array comparative genomic hybridization; bacterial artificial chromosome; del; deletion; fluorescence in situ hybridization; quantitative fluorescent polymerase chain reaction