PMID- 32398760
OWN - NLM
STAT- MEDLINE
DCOM- 20210208
LR  - 20210420
IS  - 1435-232X (Electronic)
IS  - 1434-5161 (Linking)
VI  - 65
IP  - 9
DP  - 2020 Sep
TI  - Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with 
      fertility problems in the Southeast European population.
PG  - 783-795
LID - 10.1038/s10038-020-0769-z [doi]
AB  - Pericentric inversions are among the known polymorphisms detected in the general 
      population at a frequency of 1-2%. Despite their generally benign nature, 
      pericentric inversions affect the reproductive potential of carriers by 
      increasing the risk for unbalanced live-born offspring, miscarriages, or other 
      fertility problems. Here we present a novel large pericentric inversion of 
      chromosome 9, inv(9)(p23q22.3), detected in 30 heterozygote carriers, 24 from 
      seven apparently unrelated families and 6 isolated patients, where the probands 
      were mainly referred for fertility and prenatal problems. The inversion carries a 
      significant risk for recombinant abnormal chromosomes, as in two families one 
      supernumerary rec(9)dup(9p) and one rec(9)dup(9q) were identified, leading to 
      neonatal death and miscarriage, respectively. The inversion carriers were 
      identified by three different laboratories in Greece, Cyprus and Germany 
      respectively, however all carriers have Southeast European origin. The inversion 
      appears to be more frequent in the Greek population, as the majority of the 
      carriers were identified in Greece. We were able to determine that the inversion 
      is identical in all individuals included in the study by applying a combination 
      of several methodologies, such as karyotype, fluorescence in situ hybridization 
      (FISH), chromosomal microarrays (CMA) and haplotype analysis. In addition, 
      haplotype analysis supports that the present inversion is identical by descent 
      (IBD) inherited from a single common ancestor. Our results are, therefore, highly 
      indicative of a founder effect of this inversion, presumably reflecting an event 
      that was present in a small number of individuals that migrated to the current 
      Southeast Europe/Northern Greece from a larger population.
FAU - Sismani, Carolina
AU  - Sismani C
AUID- ORCID: 0000-0002-9296-8347
AD  - Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and 
      Genetics, Nicosia, Cyprus.
AD  - The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and 
      Genetics, Nicosia, Cyprus.
FAU - Rapti, Stamatia-Maria
AU  - Rapti SM
AD  - Department of Genetics and Molecular Biology, Bioiatriki Healthcare Group, 
      Athens, Greece.
FAU - Iliopoulou, Pavlina
AU  - Iliopoulou P
AD  - Department of Genetics and Molecular Biology, Bioiatriki Healthcare Group, 
      Athens, Greece.
FAU - Spring, Anastasia
AU  - Spring A
AD  - Department of Genetics and Molecular Biology, Bioiatriki Healthcare Group, 
      Athens, Greece.
FAU - Neroutsou, Rozalia
AU  - Neroutsou R
AD  - Department of Genetics and Molecular Biology, Bioiatriki Healthcare Group, 
      Athens, Greece.
FAU - Lagou, Magdalini
AU  - Lagou M
AD  - Department of Genetics and Molecular Biology, Bioiatriki Healthcare Group, 
      Athens, Greece.
FAU - Robola, Marianna
AU  - Robola M
AD  - Department of Genetics and Molecular Biology, Bioiatriki Healthcare Group, 
      Athens, Greece.
FAU - Tsitsopoulos, Efstathios
AU  - Tsitsopoulos E
AD  - Department of Genetics and Molecular Biology, Bioiatriki Healthcare Group, 
      Athens, Greece.
FAU - Kousoulidou, Ludmila
AU  - Kousoulidou L
AUID- ORCID: 0000-0002-9774-262X
AD  - Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and 
      Genetics, Nicosia, Cyprus.
FAU - Alexandrou, Angelos
AU  - Alexandrou A
AD  - Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and 
      Genetics, Nicosia, Cyprus.
FAU - Papaevripidou, Ioannis
AU  - Papaevripidou I
AD  - Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and 
      Genetics, Nicosia, Cyprus.
FAU - Theodosiou, Athina
AU  - Theodosiou A
AUID- ORCID: 0000-0003-4363-8162
AD  - Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and 
      Genetics, Nicosia, Cyprus.
FAU - Syrrou, Maria
AU  - Syrrou M
AD  - Department of Biology, Medical School, University of Ioannina, Ioannina, Greece.
FAU - Fuchs, Sigrid
AU  - Fuchs S
AD  - Institute of Human Genetics, University Hospital, Hamburg- Eppendorf, 
      Martinistrasse 52, D-20246, Hamburg, Germany.
FAU - Hempel, Maja
AU  - Hempel M
AD  - Institute of Human Genetics, University Hospital, Hamburg- Eppendorf, 
      Martinistrasse 52, D-20246, Hamburg, Germany.
FAU - Huhle, Dagmar
AU  - Huhle D
AD  - Medizinisches Versorgungszentrum, Karl- Liebknecht- Str. 14, 04107, Leipzig, 
      Germany.
FAU - Liehr, Thomas
AU  - Liehr T
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Am Klinikum 1, D-07747, Jena, Germany.
FAU - Ziegler, Monika
AU  - Ziegler M
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Am Klinikum 1, D-07747, Jena, Germany.
FAU - Duesberg, Max
AU  - Duesberg M
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Am Klinikum 1, D-07747, Jena, Germany.
FAU - Velissariou, Voula
AU  - Velissariou V
AD  - Department of Genetics and Molecular Biology, Bioiatriki Healthcare Group, 
      Athens, Greece. voulavel@otenet.gr.
AD  - NIPD Genetics Public Company Ltd, 31 Neas Engomis Street, 2409, Engomi, Nicosia, 
      Cyprus. voulavel@otenet.gr.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20200513
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
SB  - IM
MH  - Abortion, Spontaneous/epidemiology/*genetics
MH  - Adult
MH  - Child
MH  - Chromosome Inversion
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Cyprus
MH  - Female
MH  - Fertility/*genetics
MH  - Germany
MH  - Greece
MH  - Heterozygote
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Microarray Analysis
MH  - Oligospermia/epidemiology/*genetics
MH  - Perinatal Death/*etiology
MH  - Pregnancy
EDAT- 2020/05/14 06:00
MHDA- 2021/02/09 06:00
CRDT- 2020/05/14 06:00
PHST- 2019/11/28 00:00 [received]
PHST- 2020/04/27 00:00 [accepted]
PHST- 2020/04/25 00:00 [revised]
PHST- 2020/05/14 06:00 [pubmed]
PHST- 2021/02/09 06:00 [medline]
PHST- 2020/05/14 06:00 [entrez]
AID - 10.1038/s10038-020-0769-z [pii]
AID - 10.1038/s10038-020-0769-z [doi]
PST - ppublish
SO  - J Hum Genet. 2020 Sep;65(9):783-795. doi: 10.1038/s10038-020-0769-z. Epub 2020 
      May 13.