PMID- 24075380
OWN - NLM
STAT- MEDLINE
DCOM- 20140512
LR  - 20151119
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 52
IP  - 3
DP  - 2013 Sep
TI  - Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum 
      screening, oligohydramnios, intrauterine growth restriction, ventricular septal 
      defect, preaxial polydactyly, and facial dysmorphism.
PG  - 395-400
LID - S1028-4559(13)00124-1 [pii]
LID - 10.1016/j.tjog.2013.06.004 [doi]
AB  - OBJECTIVE: To present prenatal diagnosis of mosaic trisomy 2. MATERIALS AND 
      METHODS: A 29-year-old woman underwent amniocentesis at 17 weeks of gestation 
      because of abnormal maternal serum screening, and the cytogenetic result was 
      47,XY,+2[8]/46,XY[22]. She underwent repeated amniocentesis at 19 weeks of 
      gestation. Interphase fluorescence in situ hybridization (FISH), array 
      comparative genomic hybridization (aCGH), and quantitative fluorescent polymerase 
      chain reaction (QF-PCR) were performed on uncultured amniocytes. Ultrasound at 22 
      weeks of gestation revealed severe oligohydramnios, intrauterine growth 
      restriction, and ventricular septal defect. The pregnancy was terminated at 22 
      weeks of gestation. Cytogenetic analysis was performed on parental blood, 
      cultured amniocytes, cord blood, skin, liver, lung, umbilical cord, amnion, and 
      placenta. aCGH analysis was performed on cord blood, skin, and liver. RESULTS: In 
      the samples of uncultured amniocytes, interphase FISH detected 11.1% (13/117) 
      mosaicism for trisomy 2, aCGH analysis showed the result of arr [hg19] 
      2p25.3q37.3 (0-242,936,883)x2.46, and QF-PCR excluded uniparental disomy 2. 
      QF-PCR on placenta revealed trisomy 2 derived from maternal meiosis I 
      non-disjunction. Cytogenetic analysis revealed the following results: cultured 
      amniocytes: 46,XY[21 colonies]; cord blood: 46,XY[40 cells]; skin: 46,XY[40 
      cells]; lung: 46,XY[40 cells]; liver: 47,XY,+2[4 cells]/46,XY[36 cells]; 
      umbilical cord: 47,XY,+2[4 cells]/46,XY[36 cells]; amniotic membrane: 47,XY,+2[20 
      cells]/46,XY[20 cells]; and placenta: 47,XY,+2[40 cells]. The fetus postnatally 
      manifested facial dysmorphism and preaxial polydactyly of the hand. CONCLUSION: 
      Interphase FISH and aCGH analyses on uncultured amniocytes are useful for rapid 
      confirmation of low-level mosaic trisomy 2 at amniocentesis.
CI  - Copyright (c) 2013. 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 - Chen, Yi-Yung
AU  - Chen YY
FAU - Chern, Schu-Rern
AU  - Chern SR
FAU - Wu, Peih-Shan
AU  - Wu PS
FAU - Su, Jun-Wei
AU  - Su JW
FAU - Chen, Yu-Ting
AU  - Chen YT
FAU - Lee, Chen-Chi
AU  - Lee CC
FAU - Chen, Li-Feng
AU  - Chen LF
FAU - Wang, Wayseen
AU  - Wang W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - Chromosome 2, trisomy 2p
RN  - Facial Dysmorphism with Multiple Malformations
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis
MH  - Adult
MH  - Amniocentesis
MH  - Chromosomes, Human, Pair 2
MH  - Comparative Genomic Hybridization
MH  - Craniofacial Abnormalities
MH  - Facies
MH  - Female
MH  - Fetal Growth Retardation/*diagnosis
MH  - Heart Septal Defects, Ventricular/*diagnosis
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotype
MH  - Mosaicism
MH  - Muscular Atrophy/*diagnosis
MH  - Oligohydramnios/*diagnosis
MH  - Polydactyly/*diagnosis
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Trisomy/*diagnosis
OTO - NOTNLM
OT  - amniocentesis
OT  - cytogenetic discrepancy
OT  - mosaic trisomy 2
OT  - prenatal diagnosis
OT  - trisomy 2
EDAT- 2013/10/01 06:00
MHDA- 2014/05/13 06:00
CRDT- 2013/10/01 06:00
PHST- 2013/06/13 00:00 [accepted]
PHST- 2013/10/01 06:00 [entrez]
PHST- 2013/10/01 06:00 [pubmed]
PHST- 2014/05/13 06:00 [medline]
AID - S1028-4559(13)00124-1 [pii]
AID - 10.1016/j.tjog.2013.06.004 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2013 Sep;52(3):395-400. doi: 10.1016/j.tjog.2013.06.004.