PMID- 27590390
OWN - NLM
STAT- MEDLINE
DCOM- 20170426
LR  - 20170426
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 55
IP  - 4
DP  - 2016 Aug
TI  - 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.
PG  - 596-601
LID - S1028-4559(16)30080-8 [pii]
LID - 10.1016/j.tjog.2016.06.008 [doi]
AB  - OBJECTIVE: We present molecular cytogenetic characterization of a prenatally 
      detected derivative chromosome 9 [der(9)] of unknown origin. CASE REPORT: 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. CONCLUSION: 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.
CI  - Copyright (c) 2016. Published by Elsevier B.V.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - 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.
FAU - Lin, Chen-Ju
AU  - Lin CJ
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.
FAU - Chern, Schu-Rern
AU  - Chern SR
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Wu, Peih-Shan
AU  - Wu PS
AD  - Gene Biodesign Co. Ltd, Taipei, Taiwan.
FAU - Chen, Yen-Ni
AU  - Chen YN
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Lee, Chen-Chi
AU  - Lee CC
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Li-Feng
AU  - Chen LF
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Yang, Chien-Wen
AU  - Yang CW
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Wang, Wayseen
AU  - Wang W
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; 
      Department of Bioengineering, Tatung University, Taipei, Taiwan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - Chromosome 14q, proximal duplication
RN  - Chromosome 9p Deletion Syndrome
SB  - IM
MH  - Amniocentesis
MH  - Chromosome Aberrations/*embryology
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 14/genetics
MH  - Chromosomes, Human, Pair 9/genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Fetal Diseases/diagnosis/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Translocation, Genetic/genetics
MH  - Trisomy/diagnosis/*genetics
OTO - NOTNLM
OT  - 14q duplication syndrome
OT  - 9p deletion syndrome
OT  - partial monosomy 9p
OT  - partial trisomy 14q
OT  - prenatal diagnosis
EDAT- 2016/09/04 06:00
MHDA- 2017/04/27 06:00
CRDT- 2016/09/04 06:00
PHST- 2016/05/25 00:00 [accepted]
PHST- 2016/09/04 06:00 [entrez]
PHST- 2016/09/04 06:00 [pubmed]
PHST- 2017/04/27 06:00 [medline]
AID - S1028-4559(16)30080-8 [pii]
AID - 10.1016/j.tjog.2016.06.008 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2016 Aug;55(4):596-601. doi: 10.1016/j.tjog.2016.06.008.