PMID- 34440234
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210830
IS  - 2227-9059 (Print)
IS  - 2227-9059 (Electronic)
IS  - 2227-9059 (Linking)
VI  - 9
IP  - 8
DP  - 2021 Aug 17
TI  - Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based 
      Comparative Genomic Hybridization and Microdissected Chromosome Sequencing.
LID - 10.3390/biomedicines9081030 [doi]
LID - 1030
AB  - Interpreting the clinical significance of small supernumerary marker chromosomes 
      (sSMCs) in prenatal diagnosis is still an urgent problem in genetic counselling 
      regarding the fate of a pregnancy. We present a case of prenatal diagnosis of 
      mosaic sSMC(10) in a foetus with a normal phenotype. Comprehensive cytogenomic 
      analyses by array-based comparative genomic hybridization (aCGH), sSMC 
      microdissection with next-generation sequencing (NGS) of microdissected library, 
      fluorescence in situ hybridization (FISH) with locus-specific and 
      telomere-specific DNA probes and quantitative real-time PCR revealed that 
      sSMC(10) had a ring structure and was derived from the pericentromeric region of 
      chromosome 10 with involvement of the 10p11.21-p11.1 and 10q11.21-q11.23 at 1.243 
      Mb and 7.173 Mb in size, respectively. We observed a difference in the length of 
      sSMC(10) between NGS data of the DNA library derived from a single copy of 
      sSMC(10), and aCGH results that may indicate instability and structural mosaicism 
      for ring chromosomes in foetal cells. The presence of a 9 Mb euchromatin region 
      in the analysed sSMC(10) did not lead to clinical manifestations, and a healthy 
      girl was born at term. We suggest that the ring structure of sSMCs could 
      influence sSMC manifestations and should be taken into account in genetic 
      counselling during prenatal diagnosis.
FAU - Lebedev, Igor N
AU  - Lebedev IN
AUID- ORCID: 0000-0002-0482-8046
AD  - Tomsk National Research Medical Center, Research Institute of Medical Genetics, 
      634050 Tomsk, Russia.
FAU - Karamysheva, Tatyana V
AU  - Karamysheva TV
AUID- ORCID: 0000-0002-5140-4350
AD  - Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy 
      of Sciences, 630090 Novosibirsk, Russia.
FAU - Elisaphenko, Eugeny A
AU  - Elisaphenko EA
AD  - Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy 
      of Sciences, 630090 Novosibirsk, Russia.
FAU - Makunin, Alexey I
AU  - Makunin AI
AUID- ORCID: 0000-0002-9555-5097
AD  - Wellcome Sanger Institute, Cambridge CB101SA, UK.
FAU - Zhigalina, Daria I
AU  - Zhigalina DI
AD  - Tomsk National Research Medical Center, Research Institute of Medical Genetics, 
      634050 Tomsk, Russia.
FAU - Lopatkina, Maria E
AU  - Lopatkina ME
AUID- ORCID: 0000-0002-7051-3472
AD  - Tomsk National Research Medical Center, Research Institute of Medical Genetics, 
      634050 Tomsk, Russia.
FAU - Drozdov, Gleb V
AU  - Drozdov GV
AD  - Tomsk National Research Medical Center, Research Institute of Medical Genetics, 
      634050 Tomsk, Russia.
FAU - Cheremnykh, Aleksander D
AU  - Cheremnykh AD
AD  - Tomsk National Research Medical Center, Research Institute of Medical Genetics, 
      634050 Tomsk, Russia.
FAU - Torkhova, Natalia B
AU  - Torkhova NB
AD  - Tomsk National Research Medical Center, Research Institute of Medical Genetics, 
      634050 Tomsk, Russia.
FAU - Seitova, Gulnara N
AU  - Seitova GN
AD  - Tomsk National Research Medical Center, Research Institute of Medical Genetics, 
      634050 Tomsk, Russia.
FAU - Vasilyev, Stanislav A
AU  - Vasilyev SA
AUID- ORCID: 0000-0002-5301-070X
AD  - Tomsk National Research Medical Center, Research Institute of Medical Genetics, 
      634050 Tomsk, Russia.
FAU - Kashevarova, Anna A
AU  - Kashevarova AA
AD  - Tomsk National Research Medical Center, Research Institute of Medical Genetics, 
      634050 Tomsk, Russia.
FAU - Nazarenko, Ludmila P
AU  - Nazarenko LP
AD  - Tomsk National Research Medical Center, Research Institute of Medical Genetics, 
      634050 Tomsk, Russia.
FAU - Rubtsov, Nikolay B
AU  - Rubtsov NB
AUID- ORCID: 0000-0001-7406-8057
AD  - Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy 
      of Sciences, 630090 Novosibirsk, Russia.
AD  - Department of Cytology and Genetics, Novosibirsk State University, 630090 
      Novosibirsk, Russia.
LA  - eng
GR  - 21-65-00017/Russian Science Foundation/
GR  - 19-015-00084small a, Cyrillic/Russian Foundation for Basic Research/
GR  - 0259-2021-0011/Ministry of Science and Higher Education of the Russian 
      Federation/
PT  - Journal Article
DEP - 20210817
PL  - Switzerland
TA  - Biomedicines
JT  - Biomedicines
JID - 101691304
PMC - PMC8391546
OTO - NOTNLM
OT  - array-based comparative genomic hybridization
OT  - chromosomal microdissection
OT  - mosaicism
OT  - prenatal diagnosis
OT  - ring chromosome
OT  - single-copy chromosome sequencing
OT  - small supernumerary marker chromosome
COIS- The authors declare no conflict of interest.
EDAT- 2021/08/28 06:00
MHDA- 2021/08/28 06:01
PMCR- 2021/08/17
CRDT- 2021/08/27 01:06
PHST- 2021/06/04 00:00 [received]
PHST- 2021/08/02 00:00 [revised]
PHST- 2021/08/10 00:00 [accepted]
PHST- 2021/08/27 01:06 [entrez]
PHST- 2021/08/28 06:00 [pubmed]
PHST- 2021/08/28 06:01 [medline]
PHST- 2021/08/17 00:00 [pmc-release]
AID - biomedicines9081030 [pii]
AID - biomedicines-09-01030 [pii]
AID - 10.3390/biomedicines9081030 [doi]
PST - epublish
SO  - Biomedicines. 2021 Aug 17;9(8):1030. doi: 10.3390/biomedicines9081030.