PMID- 26719770
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20151231
LR  - 20220408
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 8
DP  - 2015
TI  - Identification of small segmental translocations in patients with repeated 
      implantation failure and recurrent miscarriage using next generation sequencing 
      after in vitro fertilization/intracytoplasmic sperm injection.
PG  - 105
LID - 10.1186/s13039-015-0207-7 [doi]
LID - 105
AB  - BACKGROUND: To develop a novel preimplantation genetic screening (PGS) test using 
      next generation sequencing(NGS) as a alternative to current array comparative 
      genomic hybridization (array CGH) method for detection of small segmental 
      translocations in two patients with repeated implantation failure (RIF) and 
      recurrent miscarriage (RM). Inconsistent results were resolved by validation with 
      fluorescence in situ hybridization (FISH). CASE PRESENTATION: One couple with 
      normal cytogenetic and array CGH result suffered from implantation failure. Later 
      NGS analysis showed 46,XY.ngs[GRCh37/hg19] 
      9p24.3-9p24.1(10,291-8,680,890x1),13q33.1-13q34(103,046,327-114,785,444x3). The 
      other couple with normal cytogenetic and array CGH result also received NGS 
      analysis. Due to the detected abnormal finding, which was 46,XY.ngs 
      4q34.3-4q35.2(179,673,982-191,016,503x3),6p25.3-6p22.3 (146,672-17,829,693x1), 
      the couple decided against the corresponding embryo transfer. CONCLUSIONS: The 
      NGS approach is a reliable alternative to array CGH for the discovery of small 
      segmental translocations in patients with RIF and RM.
FAU - Ou, Jian
AU  - Ou J
AD  - Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu 
      P.R.China.
FAU - Wang, Wei
AU  - Wang W
AD  - Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu 
      P.R.China.
FAU - Feng, Tao
AU  - Feng T
AD  - Peking Jabrehoo Med Tech., Ltd, Beijing, P.R.China.
FAU - Liao, Lianming
AU  - Liao L
AD  - Central Laboratory, The Union Hospital of Fujian Medical University, Fuzhou, 
      Fujian P.R.China.
FAU - Meng, Qingxia
AU  - Meng Q
AD  - Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu 
      P.R.China.
FAU - Zou, Qinyan
AU  - Zou Q
AD  - Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu 
      P.R.China.
FAU - Ding, Jie
AU  - Ding J
AD  - Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu 
      P.R.China.
FAU - Zheng, Aiyan
AU  - Zheng A
AD  - Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu 
      P.R.China.
FAU - Duan, Chengying
AU  - Duan C
AD  - Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu 
      P.R.China.
FAU - Li, Peipei
AU  - Li P
AD  - Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu 
      P.R.China.
FAU - Liu, Qiang
AU  - Liu Q
AD  - Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu 
      P.R.China.
FAU - Lin, Chunhua
AU  - Lin C
AD  - Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu 
      P.R.China.
FAU - Li, Hong
AU  - Li H
AD  - Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu 
      P.R.China.
LA  - eng
PT  - Case Reports
DEP - 20151230
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC4696251
OTO - NOTNLM
OT  - Array CGH
OT  - NGS
OT  - PGS
OT  - RIF
OT  - RM
OT  - Translocation
EDAT- 2016/01/01 06:00
MHDA- 2016/01/01 06:01
PMCR- 2015/12/30
CRDT- 2016/01/01 06:00
PHST- 2015/10/16 00:00 [received]
PHST- 2015/12/18 00:00 [accepted]
PHST- 2016/01/01 06:00 [entrez]
PHST- 2016/01/01 06:00 [pubmed]
PHST- 2016/01/01 06:01 [medline]
PHST- 2015/12/30 00:00 [pmc-release]
AID - 207 [pii]
AID - 10.1186/s13039-015-0207-7 [doi]
PST - epublish
SO  - Mol Cytogenet. 2015 Dec 30;8:105. doi: 10.1186/s13039-015-0207-7. eCollection 
      2015.