PMID- 31478360
OWN - NLM
STAT- MEDLINE
DCOM- 20200622
LR  - 20210110
IS  - 2324-9269 (Electronic)
IS  - 2324-9269 (Linking)
VI  - 7
IP  - 10
DP  - 2019 Oct
TI  - Inverted duplication, triplication and quintuplication through sequential 
      breakage-fusion-bridge events induced by a terminal deletion at 5p in a case of 
      spontaneous abortion.
PG  - e00965
LID - 10.1002/mgg3.965 [doi]
LID - e00965
AB  - BACKGROUND: Integrated chromosome, fluorescence in situ hybridization (FISH) and 
      array comparative genomic hybridization (aCGH) analyses have been effective in 
      defining unbalanced chromosomal rearrangements. Discordant chromosome and aCGH 
      results are rarely reported. METHODS: Routine cytogenomic analyses and literature 
      review were performed in the study of a case from products of conception (POC). 
      RESULTS: Chromosome and FISH analysis revealed a mosaic pattern consisting of a 
      primary aberration of an inverted duplication of 5p and derived secondary and 
      tertiary aberrations from sequential triplication and quintuplication of 5p, 
      respectively. The aCGH analysis detected only a 1.521 Mb terminal deletion at 
      5p15.33 with no other pathogenic copy number variants in the genome. This mosaic 
      karyotypic pattern likely resulted from chromosome instability induced by 
      sequential breakage-fusion-bridge events during in vitro cell culture. A review 
      of literature found heterogeneous distal deletion and inverted duplication of 5p 
      in prenatal and pediatric cases. CONCLUSION: This is the first case reported in 
      POC with a unique mosaic pattern and discordant chromosome and aCGH results. 
      Caution should be applied in reporting and interpreting these discordant results 
      and further analysis for underlying mechanism should be considered.
CI  - (c) 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley 
      Periodicals, Inc.
FAU - Chai, Hongyan
AU  - Chai H
AD  - Clinical Cytogenetics Laboratory, Department of Genetics, Yale University School 
      of Medicine, New Haven, CT, USA.
FAU - Grommisch, Brittany
AU  - Grommisch B
AD  - Clinical Cytogenetics Laboratory, Department of Genetics, Yale University School 
      of Medicine, New Haven, CT, USA.
FAU - DiAdamo, Autumn
AU  - DiAdamo A
AD  - Clinical Cytogenetics Laboratory, Department of Genetics, Yale University School 
      of Medicine, New Haven, CT, USA.
FAU - Wen, Jiadi
AU  - Wen J
AD  - Clinical Cytogenetics Laboratory, Department of Genetics, Yale University School 
      of Medicine, New Haven, CT, USA.
FAU - Hui, Pei
AU  - Hui P
AD  - Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.
FAU - Li, Peining
AU  - Li P
AUID- ORCID: 0000-0003-4746-4905
AD  - Clinical Cytogenetics Laboratory, Department of Genetics, Yale University School 
      of Medicine, New Haven, CT, USA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20190902
PL  - United States
TA  - Mol Genet Genomic Med
JT  - Molecular genetics & genomic medicine
JID - 101603758
RN  - 0 (Receptors, G-Protein-Coupled)
RN  - 0 (TAS2R1 protein, human)
SB  - IM
MH  - Abortion, Spontaneous/*diagnosis/genetics
MH  - Adult
MH  - Chromosomal Instability
MH  - *Chromosome Deletion
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotype
MH  - Pregnancy
MH  - Receptors, G-Protein-Coupled/genetics
PMC - PMC6785443
OTO - NOTNLM
OT  - breakage-fusion-bridge
OT  - inverted duplication
OT  - terminal deletion at 5p
COIS- The authors declare no conflict of interest. There were no prestudy requirements 
      on the patient's specimens and clinical indications and no poststudy interaction 
      and intervention with the patients. This clinical report was a retrospective 
      study and deemed exempted from Institutional Review Boards (IRB) approval and 
      waiver of consent based on the policy of Yale University IRB.
EDAT- 2019/09/04 06:00
MHDA- 2020/06/23 06:00
PMCR- 2019/09/02
CRDT- 2019/09/04 06:00
PHST- 2019/07/12 00:00 [received]
PHST- 2019/08/09 00:00 [revised]
PHST- 2019/08/12 00:00 [accepted]
PHST- 2019/09/04 06:00 [pubmed]
PHST- 2020/06/23 06:00 [medline]
PHST- 2019/09/04 06:00 [entrez]
PHST- 2019/09/02 00:00 [pmc-release]
AID - MGG3965 [pii]
AID - 10.1002/mgg3.965 [doi]
PST - ppublish
SO  - Mol Genet Genomic Med. 2019 Oct;7(10):e00965. doi: 10.1002/mgg3.965. Epub 2019 
      Sep 2.