Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.
Abortion, Spontaneous
/ epidemiology
Adult
Child
Chromosome Inversion
Chromosomes, Human, Pair 9
/ genetics
Cyprus
Female
Fertility
/ genetics
Germany
Greece
Heterozygote
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Karyotyping
Male
Microarray Analysis
Oligospermia
/ epidemiology
Perinatal Death
/ etiology
Pregnancy
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
received:
28
11
2019
accepted:
27
04
2020
revised:
25
04
2020
pubmed:
14
5
2020
medline:
9
2
2021
entrez:
14
5
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32398760
doi: 10.1038/s10038-020-0769-z
pii: 10.1038/s10038-020-0769-z
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
783-795Références
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