title: Prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation of der(9)t(9;14)(p24.2;q32.11) associated with 9p terminal deletion and 14q distal duplication.
abstract: OBJECTIVE
  We present molecular cytogenetic characterization of a prenatally detected derivative chromosome 9 [der(9)] of unknown origin.
  
  
  METHODS
  A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, which revealed a der(9) chromosome of unknown origin. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis revealed a 2.593 Mb deletion of 9p24.3-p24.2 encompassing DOCK8, KANK1, DMRT1, and VLDLR and a 16.65 Mb duplication of 14q32.11-q32.33 encompassing DLK1, RTL1, MEG3, RTL1as, and MEG8. Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis using D9S937 (9p24.2) and D14S605 (14q32.2) showed a paternal origin of 9p24.2 deletion and a paternal origin of 14q32.2 duplication consistent with a paternal origin of the de novo aberrant chromosome of der(9)t(9p;14q). The fetal karyotype was 46,XX,der(9)t(9;14) (p24.2;q32.11). Metaphase fluorescence in situ hybridization (FISH) analysis using RP11-57K23 (14q32.33), RP11-31F19 (9p24.3), RP11-30O14 (9p21.1), and RP11-1105I14 (14q11.2) confirmed an unbalanced reciprocal translocation of der(9)t(9p;14q). We discuss 9p deletion syndrome and 14q duplication syndrome in this case.
  
  
  CONCLUSIONS
  Molecular cytogenetic techniques such as aCGH, FISH, and QF-PCR are useful in the determination of the origin and nature of a prenatally detected de novo derivative chromosome of unknown origin.
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: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.
authors: Chen-Ju
authors: CJ
authors: Lin
authors: Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
authors: Schu-Rern
authors: SR
authors: Chern
authors: Gene Biodesign Co. Ltd, Taipei, Taiwan.
authors: Peih-Shan
authors: PS
authors: Wu
authors: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors: Yen-Ni
authors: YN
authors: Chen
authors: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors: Shin-Wen
authors: SW
authors: Chen
authors: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors: Chen-Chi
authors: CC
authors: Lee
authors: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors: Li-Feng
authors: LF
authors: Chen
authors: Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
authors: Chien-Wen
authors: CW
authors: Yang
authors: Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
authors: Wayseen
authors: W
authors: Wang
mesh_terms: D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000196:embryology*; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic / Q000235:genetics; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*
keywords: 14q duplication syndrome; 9p deletion syndrome; partial monosomy 9p; partial trisomy 14q; prenatal diagnosis