Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of "8p Inverted Duplication/Deletion Syndrome"
Inverted duplication syndrome with an adjacent terminal deletion of the short arm of chromosome 8-inv dup del(8p)-is a rare complex structural chromosomal rearrangement with a wide range of clinical manifestations. Molecular cytogenetic variants of chromosomal imbalance depend on the mechanism of re...
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Published in | Biomedicines Vol. 10; no. 3; p. 567 |
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Main Authors | , , , , , , , |
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Abstract | Inverted duplication syndrome with an adjacent terminal deletion of the short arm of chromosome 8-inv dup del(8p)-is a rare complex structural chromosomal rearrangement with a wide range of clinical manifestations. Molecular cytogenetic variants of chromosomal imbalance depend on the mechanism of rearrangement formation. We analyzed the clinical-genetic and molecular cytogenetic characteristics of the 8p inverted duplication/deletion syndrome, as well as the genotype-phenotype correlation in eight unrelated cases with the rearrangement of inv dup del(8p). The main clinical manifestations in all cases are psychomotor and language delay, muscle hypotonia, and dysmorphic facial features. Malformations of the central nervous system, such as corpus callosum agenesis, were found in five cases. Seizures were reported in only one case. We found that the cause of the formation of the rearrangement was generally ectopic recombination (seven out of eight cases) and this was due to U-type exchange in only one case. Depending on the mechanism of formation, the characteristics of the genomic imbalance were different, which made it possible to identify two molecular cytogenetic variants in the cases we describe here. No association between molecular cytogenetic variants and clinical manifestations was found. |
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AbstractList | Inverted duplication syndrome with an adjacent terminal deletion of the short arm of chromosome 8—inv dup del(8p)—is a rare complex structural chromosomal rearrangement with a wide range of clinical manifestations. Molecular cytogenetic variants of chromosomal imbalance depend on the mechanism of rearrangement formation. We analyzed the clinical–genetic and molecular cytogenetic characteristics of the 8p inverted duplication/deletion syndrome, as well as the genotype–phenotype correlation in eight unrelated cases with the rearrangement of inv dup del(8p). The main clinical manifestations in all cases are psychomotor and language delay, muscle hypotonia, and dysmorphic facial features. Malformations of the central nervous system, such as corpus callosum agenesis, were found in five cases. Seizures were reported in only one case. We found that the cause of the formation of the rearrangement was generally ectopic recombination (seven out of eight cases) and this was due to U-type exchange in only one case. Depending on the mechanism of formation, the characteristics of the genomic imbalance were different, which made it possible to identify two molecular cytogenetic variants in the cases we describe here. No association between molecular cytogenetic variants and clinical manifestations was found. |
Author | Markova, Zhanna G Rudenskaya, Galina E Minzhenkova, Marina E Kanivets, Ilya V Shilova, Nadezda V Matyushchenko, Galina N Dadali, Elena L Yurchenko, Darya A |
AuthorAffiliation | 2 Genomed Ltd., 115093 Moscow, Russia; dr.kanivets@genomed.ru 1 Research Centre for Medical Genetics, 115522 Moscow, Russia; maramin@mail.ru (M.E.M.); genclinic@yandex.ru (E.L.D.); zhmark71@mail.ru (Z.G.M.); geruden@gmail.com (G.E.R.); matyushchenko@med-gen.ru (G.N.M.); nvsh05@mail.ru (N.V.S.) |
AuthorAffiliation_xml | – name: 2 Genomed Ltd., 115093 Moscow, Russia; dr.kanivets@genomed.ru – name: 1 Research Centre for Medical Genetics, 115522 Moscow, Russia; maramin@mail.ru (M.E.M.); genclinic@yandex.ru (E.L.D.); zhmark71@mail.ru (Z.G.M.); geruden@gmail.com (G.E.R.); matyushchenko@med-gen.ru (G.N.M.); nvsh05@mail.ru (N.V.S.) |
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Keywords | chromosomal/genomic imbalance FISH spacer inv dup del(8p) CMA |
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Snippet | Inverted duplication syndrome with an adjacent terminal deletion of the short arm of chromosome 8-inv dup del(8p)-is a rare complex structural chromosomal... Inverted duplication syndrome with an adjacent terminal deletion of the short arm of chromosome 8—inv dup del(8p)—is a rare complex structural chromosomal... |
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SubjectTerms | Central nervous system chromosomal/genomic imbalance Chromosome 8 Chromosome deletion Chromosome rearrangements Chromosomes CMA Convulsions & seizures Corpus callosum Cysts Cytogenetics FISH Genomes Genotypes inv dup del(8p) Patients Phenotypes Polymorphism Recombination Seizures Software spacer |
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Title | Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of "8p Inverted Duplication/Deletion Syndrome" |
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