PMID- 36452189
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20221202
IS  - 2228-5482 (Print)
IS  - 2251-676X (Electronic)
IS  - 2228-5482 (Linking)
VI  - 23
IP  - 4
DP  - 2022 Oct-Dec
TI  - An Incidental Detection of a Cryptic Complex Chromosome Rearrangement Found 
      During NGS Based PGT-SR: A Case Report.
PG  - 303-309
LID - 10.18502/jri.v23i4.10817 [doi]
AB  - BACKGROUND: Complex chromosome rearrangements (CCRs) involve more than 2 
      chromosomal breakpoints and cause the exchanges of chromosomal segments between 
      two or more chromosomes. The carriers of CCRs have normal phenotypes, but they 
      have a higher risk of reproductive failure. CASE PRESENTATION: This paper 
      presents a couple with a history of two affected children, one spontaneous 
      abortion, three in vitro fertilization (IVF) failures, and one healthy boy who 
      were referred to our laboratory for preimplantation genetic testing (PGT). The 
      wife had been evaluated as a carrier of 46,XX,t (2;6)(p21;p25); therefore, four 
      IVF treatment cycles supported with PGT for this translocation had been performed 
      in different IVF centers until the couple consulted our laboratory. Only one of 
      these four IVF attempts had resulted in a healthy boy and this IVF study had been 
      performed with fluorescence in situ hybridization (FISH)-based preimplantation 
      genetic testing for structural chromosomal rearrangements (PGT-SR). The fifth IVF 
      study with next-generation sequencing (NGS)-based PGT was performed by our 
      laboratory and no healthy embryo was found in evaluated 6 embryos. During our 
      NGS-based PGT, the cryptic involvement of 12p was firstly detected. FISH with 
      chromosome 2,6, and 12 specific probes revealed that the mother was a carrier of 
      a balanced 3-way translocation of 46,XX,t(2;6;12)(p21;p25;p13). CONCLUSION: NGS 
      based PGT-SR method is an accurate method for detecting the copy number 
      variations and is helpful to find out the cryptic CCRs.
CI  - Copyright(c) 2022, Avicenna Research Institute.
FAU - Ozer, Leyla
AU  - Ozer L
AD  - Department of Medical Genetics, Faculty of Medicine, Yuksek Ihtisas University, 
      Ankara, Turkey.
AD  - Mikrogen Genetic Diagnosis Center, Ankara, Turkey.
FAU - Aktuna, Suleyman
AU  - Aktuna S
AD  - Department of Medical Genetics, Faculty of Medicine, Yuksek Ihtisas University, 
      Ankara, Turkey.
AD  - Mikrogen Genetic Diagnosis Center, Ankara, Turkey.
FAU - Unsal, Evrim
AU  - Unsal E
AD  - Department of Medical Genetics, Faculty of Medicine, Yuksek Ihtisas University, 
      Ankara, Turkey.
AD  - Mikrogen Genetic Diagnosis Center, Ankara, Turkey.
FAU - Baltaci, Aysun
AU  - Baltaci A
AD  - Gen-Art IVF Center, Ankara, Turkey.
FAU - Baltaci, Volkan
AU  - Baltaci V
AD  - Department of Medical Genetics, Faculty of Medicine, Yuksek Ihtisas University, 
      Ankara, Turkey.
AD  - Mikrogen Genetic Diagnosis Center, Ankara, Turkey.
LA  - eng
PT  - Case Reports
PL  - Iran
TA  - J Reprod Infertil
JT  - Journal of reproduction & infertility
JID - 101535586
PMC - PMC9674458
OTO - NOTNLM
OT  - Chromosomal translocation
OT  - Chromosome abnormalities
OT  - Next generation sequencing
OT  - Preimplantation genetic testing
COIS- Conflict of Interest Authors declare no conflict of interest.
EDAT- 2022/12/02 06:00
MHDA- 2022/12/02 06:01
PMCR- 2022/10/01
CRDT- 2022/12/01 02:39
PHST- 2021/12/25 00:00 [received]
PHST- 2022/05/05 00:00 [accepted]
PHST- 2022/12/01 02:39 [entrez]
PHST- 2022/12/02 06:00 [pubmed]
PHST- 2022/12/02 06:01 [medline]
PHST- 2022/10/01 00:00 [pmc-release]
AID - JRI-23-303 [pii]
AID - 10.18502/jri.v23i4.10817 [doi]
PST - ppublish
SO  - J Reprod Infertil. 2022 Oct-Dec;23(4):303-309. doi: 10.18502/jri.v23i4.10817.