Uterine Leiomyomas with an Apparently Normal Karyotype Comprise Minor Heteroploid Subpopulations Differently Represented in vivo and in vitro
In the present study, we aimed to check whether uterine leiomyomas (ULs) with an apparently normal karyotype in vitro comprise “hidden” cell subpopulations with numerical chromosome abnormalities (heteroploid cells). A total of 32 ULs obtained from 32 patients were analyzed in the study. Each UL was sampled for in vivo and in vitro cytogenetic studies. Karyotyping was performed on metaphase preparations from the culture d UL samples. A normal karyotype was revealed in 20 out of the 32 ULs, of which 9 were selected for further study based on the good quality of the interphase preparations. Then, using interphase FISH wi...
Source: Cytogenetic and Genome Research - February 5, 2021 Category: Genetics & Stem Cells Source Type: research
Two Patients with Complex Rearrangements Suggestive of Germline Chromoanagenesis
We report on 2 cases with complex genomic events characterized by multiple copy number gains and losses confined to a single chromosome region, which are suggestive of constitutional chromoanagenesis. Case 1 is a 43-year-old male with intellectual disability and recently developed generalized tonic-clonic seizures. Chromosomal microarray analysis identified a complex rearrangement involving chromosome region 14q31.1q32.2, consisting of 16 breakpoints ranging in size from 0.2 to 6.2 Mb, with 5 segments of normal copy number present between these alterations. Interestingly, this case represents the oldest known patient with ...
Source: Cytogenetic and Genome Research - February 3, 2021 Category: Genetics & Stem Cells Source Type: research
Cytogenetics of Four Species of the Green Clade < b > < i > Aplastodiscus < /i > < /b > Lutz, 1950 (Anura: Cophomantinae): New Insights into the Chromosomal Evolution of the Genus
This study aims to report karyotypic information on 4 species from the last 2 groups using classical and molecular cytogenetic techniques and hypothesize chromosomal evolutionary trends within the species groups.Aplastodiscus weygoldti showed 2n = 22; Ag-NOR and FISH 18S rDNA signals were located in the interstitial region of the short arms of chromosome pair 6.Aplastodiscus cavicola, Aplastodiscus sp. 4, andAplastodiscus sp. 6 showed 2n = 18; Ag-NOR and FISH 18S rDNA bands were located in the terminal region of the long arm of chromosome pair 9. Our results support multiple and independent chromosome fusion events withinA...
Source: Cytogenetic and Genome Research - January 26, 2021 Category: Genetics & Stem Cells Source Type: research
Atypical 22q11.2 Microduplication with “Typical” Signs and Overgrowth
We report a woman with overgrowth and macrocephaly, mild mental retardation, heart defect, kidney anomalies, and dysmorphic features. Array-CGH analysis revealed a 246-kb duplication at the 22q11.2 region. No additional clinically significant CNVs were found. The case resembles a previously published case also showing overgrowth and macrocephaly with an almost identical 22q11.2 duplication of 252 kb.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - January 20, 2021 Category: Genetics & Stem Cells Source Type: research
Two Novel Cases of Autosomal Translocations in the Horse: Warmblood Family Segregating t(4;30) and a Cloned Arabian with a de novo t(12;25)
We report 2 novel autosomal translocations in the horse. In Case 1, a breeding stallion with a balanced t(4p;30) had produced normal foals and those with congenital abnormalities. Of his 9 phenotypically normal offspring, 4 had normal karyotypes, 4 had balanced t(4p;30), and 1 carried an unbalanced translocation with tertiary trisomy of 4p. We argue that unbalanced forms of t(4p;30) are more tolerated and result in viable congenital abnormalities, without causing embryonic death like all other known equine autosomal translocations. In Case 2, two stallions produced by somatic cell nuclear transfer from the same donor were ...
Source: Cytogenetic and Genome Research - December 16, 2020 Category: Genetics & Stem Cells Source Type: research
Partial 5p Gain and 15q Loss in Three Patients from a Family with a t(5;15)(p13.3;q26.3) Translocation
Several patients with 5p duplication or 15q deletion have been reported in the literature, involving different chromosome regions and clinical features. Here, we describe a family in which we identified a 30-Mb 5p15.33p13.3 gain and a 2.5-Mb 15q26.3 loss in 3 individuals, due to a balanced familial translocation between chromosomes 5p and 15q. They presented a similar combination of clinical findings related to their genetic imbalances, but there were also phenotypic differences between them. Our analyses show that their clinical picture is mostly caused by the loss in 15q and not the gain in 5p, despite its much larger si...
Source: Cytogenetic and Genome Research - December 14, 2020 Category: Genetics & Stem Cells Source Type: research
Fertility Relevance Probability Analysis Shortlists Genetic Markers for Male Fertility Impairment
Impairment of male fertility is one of the major public health issues worldwide. Nevertheless, genetic causes of male sub- and infertility can often only be suspected due to the lack of reliable and easy-to-use routine tests. Yet, the development of a marker panel is complicated by the large quantity of potentially predictive markers. Actually, hundreds or even thousands of genes could have fertility relevance. Thus, a systematic method enabling a selection of the most predictive markers out of the many candidates is required. As a criterion for marker selection, we derived a gene-specific score, which we refer to as ferti...
Source: Cytogenetic and Genome Research - November 25, 2020 Category: Genetics & Stem Cells Source Type: research
Chromosomal Evolution in Aspredinidae (Teleostei, Siluriformes): Insights on Intra- and Interspecific Relationships with Related Groups
In this study, conventional and molecular cytogenetic studies coupled with nucleotide sequencing were performed in 6 Aspredininae species (Amaralia hypsiura,Bunocephalus cf.aloikae,Bunocephalus amaurus,Bunocephalus aff.coracoideus,Bunocephalus verrucosus, andPlatystacus cotylephorus) from different locations of the Amazon hydrographic basin. Our results showed highly divergent diploid numbers (2n) among the species, ranging from 49 to 74, including the occurrence of an XX/X0 sex chromosome system. A neighbor-joining phylogram based on the cytochromec oxidase I (COI) showed thatBunocephalus coracoideus is not a monophyletic...
Source: Cytogenetic and Genome Research - November 23, 2020 Category: Genetics & Stem Cells Source Type: research
Karyotype Characterisation of Two Australian Dragon Lizards (Squamata: Agamidae: Amphibolurinae) Reveals Subtle Chromosomal Rearrangements Between Related Species with Similar Karyotypes
In this study, we applied advanced molecular cytogenetic techniques, such as fluorescence in situ hybridisation (FISH) and cross-species gene mapping, to characterise chromosomes and to identify sex chromosomes in these species. Our data suggest that both species have a conserved karyotype withP. vitticeps but with subtle rearrangements in the chromosomal landscapes. We could identify thatT. lineata possesses a female heterogametic system (ZZ/ZW) with a pair of sex microchromosomes, whileR. diemensis may have heterogametic sex chromosomes, but this requires further investigations. Our study shows the pattern of chromosom...
Source: Cytogenetic and Genome Research - November 18, 2020 Category: Genetics & Stem Cells Source Type: research
The Karyotype of Blainville ’s Beaked Whale, < b > < i > Mesoplodon densirostris < /i > < /b >
The karyotype of the Odontocete whale,Mesoplodon densirostris, has not been previously reported. The chromosome number is determined to be 2n = 42, and the karyotype is presented using G-, C-, and nucleolar organizer region (NOR) banding. The findings include NOR regions on 2 chromosomes, regions of heterochromatic variation, a large block of heterochromatin on the X chromosome, and a relatively large Y chromosome. The karyotype is compared to published karyograms of 2 other species ofMesoplodon.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - November 18, 2020 Category: Genetics & Stem Cells Source Type: research
Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14
Trisomy 14 (T14) mosaicism is a rare chromosomal condition characterised by various clinical features, including developmental delay, growth impairment, and dysmorphism. Here, we report on a 12-year-old female referred for cytogenetic analysis due to short stature. Standard GTG-banding analysis on the patient ’s peripheral blood revealed mosaic Τ14 in the form of an i(14)(q10) in 3% of cells. Furthermore, a small supernumerary marker chromosome (sSMC) had been detected in the first trimester of pregnancy in chorionic villus sampling. A skin biopsy in the patient revealed the presence of a metacentric sSMC in 100% of cel...
Source: Cytogenetic and Genome Research - November 17, 2020 Category: Genetics & Stem Cells Source Type: research
Lapatinib Decreases the Preimplantation Aneuploidy Rate of in vitro Fertilized Mouse Embryos without Affecting Completion of Preimplantation Development
One of the major reasons for implantation failure and spontaneous abortion is a high incidence of preimplantation chromosomal aneuploidy. Lapatinib simultaneously inhibits EGFR and HER2, leading to apoptosis. We hypothesized a higher sensitivity for aneuploid cells in preimplantation embryos to lapatinib based on reports of aneuploid cell lines being sensitive to some anticancer drugs. Late 2-cell mouse embryos were treated with lapatinib after determining a nontoxic dose. Morphologies were recorded 24, 48, and 60 hours later. The effect of lapatinib on the aneuploidy rate was evaluated by studying blastocyst cells using F...
Source: Cytogenetic and Genome Research - November 11, 2020 Category: Genetics & Stem Cells Source Type: research
Chromosomal Locations of a Non-LTR Retrotransposon, < b > < i > Menolird18 < /i > < /b > , in < b > < i > Cucumis melo < /i > < /b > and < b > < i > Cucumis sativus < /i > < /b > , and Its Implication on Genome Evolution of < b > < i > Cucumis < /i > < /b > Species
Mobile elements are major regulators of genome evolution through their effects on genome size and chromosome structure in higher organisms. Non-long terminal repeat (non-LTR) retrotransposons, one of the subclasses of transposons, are specifically inserted into repetitive DNA sequences. While studies on the insertion of non-LTR retrotransposons into ribosomal RNA genes and other repetitive DNA sequences have been reported in the animal kingdom, studies in the plant kingdom are limited. Here, using FISH, we confirmed thatMenolird18, a member of LINE (long interspersed nuclear element) in non-LTR retrotransposons and found i...
Source: Cytogenetic and Genome Research - November 10, 2020 Category: Genetics & Stem Cells Source Type: research
New Homozygous Missense < b > < i > MSMO1 < /i > < /b > Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis
This study demonstrates how genomics-based diagnosis and therapy can be helpful in clinical practice.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - November 6, 2020 Category: Genetics & Stem Cells Source Type: research
Genomic Characterization of a Rare, de Novo Unbalanced ins(3;1)(p25.3;q21.3q23.3) in a Female Child with Multiple Congenital Anomalies
“Simple” 1-way interchromosomal insertions involving an interstitial 1q segment are rare, and therefore, their characterization at the base pair level remains understudied. Here, we describe the genomic characterization of a previously unreported de novo interchromosomal insertion (3;1) entailin g an about 12-Mb pure gain of 1q21.3q23.3 that causes typical (microcephaly, developmental delay, and facial dysmorphism) and atypical (interauricular communication, small feet with bilateral deep plantar creases, syndactyly of II-IV toes, and mild pachyonychia of all toes) clinical manifestations a ssociated with this region. ...
Source: Cytogenetic and Genome Research - November 5, 2020 Category: Genetics & Stem Cells Source Type: research
