Mosaicism for an ectopic NOR at 8pter and a complex rearrangement of chromosome 8 in a patient with severe psychomotor retardation

2004 ◽  
Vol 106 (1) ◽  
pp. 55-60 ◽  
Author(s):  
U. Felbor ◽  
N. Knötgen ◽  
G. Schams ◽  
A. Buwe ◽  
C. Steinlein ◽  
...  
Keyword(s):  
Psychomotor Retardation ◽  
Chromosome 8 ◽  
Complex Rearrangement

scholarly journals Clinical, neuroimaging and cytogenetic findings in 20 patients with corpus callosum dysgenesis

2002 ◽  
Vol 60 (2B) ◽  
pp. 382-385 ◽  
Author(s):  
Anna Cláudia Evangelista dos Santos ◽  
Sônia Regina Midleton ◽  
Regina Lugarinho Fonseca ◽  
Suely Rodrigues dos Santos ◽  
Juan Clinton Llerena Jr. ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Psychomotor Retardation ◽  
Chromosome 8 ◽  
Chromosomal Anomalies ◽  
Craniofacial Anomalies ◽  
Corpus Callosum Agenesis

Twenty children with corpus callosum agenesis or hypoplasia were evaluated under a standardized investigation protocol. Psychomotor retardation, seizures, and craniofacial anomalies were the most prominent findings. There were three cases of chromosomal anomalies, all of them representing trisomy of chromosome 8.

Three Novel Aberrations Involving PLAG1 Leading to Lipoblastoma in Three Different Patients: High Amplification, Partial Deletion, and a Unique Complex Rearrangement

2019 ◽  
Vol 159 (2) ◽  
pp. 81-87 ◽  
Author(s):  
Guoliang Wang ◽  
Miguel A. Guzman ◽  
Jacqueline R. Batanian
Keyword(s):  
Benign Neoplasm ◽  
Chromosome 8 ◽  
Retroperitoneal Mass ◽  
Partial Deletion ◽  
Genetic Aberrations ◽  
Complex Rearrangement ◽  
Promoter Swapping ◽  
High Level ◽  
Lipomatous Tumors

Lipoblastoma is a rare benign neoplasm with overlapping histology with other lipomatous tumors. Genetic aberrations including translocations of 8q and splitting of the PLAG1 probe leading to “promoter swapping” and gains of chromosome 8 or PLAG1 foci have been described in lipoblastoma. Here, we report 3 lipoblastomas revealing novel genetic aberrations involving PLAG1: a high level of PLAG1 amplification up to 50 copies in a 4-year-old girl with recurrence of a right flank mass, a partial deletion of PLAG1 with the flanking junction breakpoints involving the 3′PLAG1 and 5′HAS2 genes in a 17-month-old boy with a retroperitoneal mass, and an insertion of 2q31 into 8q11.2 and translocation of 8q to 2q with the latter translocated onto 12q leading to separation of the PLAG1 FISH probe in a 5-year-old girl with a left back mass. Our novel cytogenetic findings further expand the mechanisms of PLAG1 transcriptional upregulation in lipoblastoma pathogenesis.

588: Detection of Chromosome 8 Alterations in Paired Needle Biopsy and Prostatectomy Specimens Using Fluorescence In-Situ Hybridization

2004 ◽  
Vol 171 (4S) ◽  
pp. 156-156
Author(s):  
Chandler D. Dora ◽  
Yasushi Kondo ◽  
Fusheng X. Lan ◽  
Jeffrey M. Slezak ◽  
Erik J. Bergstralh ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Needle Biopsy ◽  
Chromosome 8

Low level trisomy 16 mosaicism causing psychomotor retardation, epilepsia, adipositas and clubbing feet in an 8-year old girl

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
S Herbertz ◽  
MK Bernhard ◽  
A Kujat ◽  
W Kiess ◽  
A Merkenschlager
Keyword(s):  
Psychomotor Retardation ◽  
Trisomy 16 ◽  
Low Level

scholarly journals Simultaneous genotypic and immunophenotypic analysis of interphase cells using dual-color fluorescence: a demonstration of lineage involvement in polycythemia vera

Blood ◽  
1992 ◽  
Vol 80 (4) ◽  
pp. 1033-1038 ◽  
Author(s):  
CM Price ◽  
EJ Kanfer ◽  
SM Colman ◽  
N Westwood ◽  
AJ Barrett ◽  
...  
Keyword(s):  
Polycythemia Vera ◽  
Fluorescent In Situ Hybridization ◽  
Chromosomal Abnormalities ◽  
Myeloproliferative Disorders ◽  
Chromosome 8 ◽  
Dual Fluorescence ◽  
Interphase Cell ◽  
Molecular Alterations ◽  
Interphase Cells

Abstract Fluorescent in situ hybridization has become a useful technique by which chromosomal abnormalities may be shown in interphase cells. We present a dual-fluorescence method whereby a chromosomal and immunophenotypic marker can be visualized simultaneously in the same interphase cell. Two patients with the myeloproliferative disorder polycythemia vera and trisomy for chromosome 8 have been studied using this technique and selective involvement of the myeloid and erythrocyte lineages has been shown by the detection of the trisomy in immunophenotyped cells. Simultaneous analysis of genotype and immunophenotype in individual cells from patients with myeloproliferative disorders or leukemia may help identify the developmental and lineage status of cells in which molecular alterations have resulted in clonal advantage.

scholarly journals Introgression of the sesquiterpene biosynthesis from Solanum habrochaites to cultivated tomato offers insights into trichome morphology and arthropod resistance

Planta ◽  
2021 ◽  
Vol 254 (1) ◽  
Author(s):  
Rodrigo Therezan ◽  
Ruy Kortbeek ◽  
Eloisa Vendemiatti ◽  
Saioa Legarrea ◽  
Severino M. de Alencar ◽  
...  
Keyword(s):  
Glandular Trichomes ◽  
Pest Resistance ◽  
Chromosome 8 ◽  
Cavity Size ◽  
Solanum Habrochaites ◽  
Genetic Components ◽  
Internal Storage ◽  
In The Wild ◽  
Low Levels ◽  
Trichome Morphology

Abstract Main conclusion Cultivated tomatoes harboring the plastid-derived sesquiterpenes from S. habrochaites have altered type-VI trichome morphology and unveil additional genetic components necessary for piercing-sucking pest resistance. Abstract Arthropod resistance in the tomato wild relative Solanum habrochaites LA1777 is linked to specific sesquiterpene biosynthesis. The Sesquiterpene synthase 2 (SsT2) gene cluster on LA1777 chromosome 8 controls plastid-derived sesquiterpene synthesis. The main genes at SsT2 are Z-prenyltransferase (zFPS) and Santalene and Bergamotene Synthase (SBS), which produce α-santalene, β-bergamotene, and α-bergamotene in LA1777 round-shaped type-VI glandular trichomes. Cultivated tomatoes have mushroom-shaped type-VI trichomes with much smaller glands that contain low levels of monoterpenes and cytosolic-derived sesquiterpenes, not presenting the same pest resistance as in LA1777. We successfully transferred zFPS and SBS from LA1777 to cultivated tomato (cv. Micro-Tom, MT) by a backcrossing approach. The trichomes of the MT-Sst2 introgressed line produced high levels of the plastid-derived sesquiterpenes. The type-VI trichome internal storage-cavity size increased in MT-Sst2, probably as an effect of the increased amount of sesquiterpenes, although it was not enough to mimic the round-shaped LA1777 trichomes. The presence of high amounts of plastid-derived sesquiterpenes was also not sufficient to confer resistance to various tomato piercing-sucking pests, indicating that the effect of the sesquiterpenes found in the wild S. habrochaites can be insect specific. Our results provide for a better understanding of the morphology of S. habrochaites type-VI trichomes and paves the way to obtain insect-resistant tomatoes.

scholarly journals Estimation of Cry3Bb1 resistance allele frequency in field populations of western corn rootworm using a genetic marker

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Alan Willse ◽  
Lex Flagel ◽  
Graham Head
Keyword(s):  
Allele Frequency ◽  
Western Corn Rootworm ◽  
Allele Frequencies ◽  
Chromosome 8 ◽  
Corn Belt ◽  
Corn Rootworm ◽  
Resistance Allele ◽  
Response To Selection ◽  
The Us ◽  
Causal Allele

Abstract Following the discovery of western corn rootworm (WCR; Diabrotica virgifera virgifera) populations resistant to the Bacillus thuringiensis (Bt) protein Cry3Bb1, resistance was genetically mapped to a single locus on WCR chromosome 8 and linked SNP markers were shown to correlate with the frequency of resistance among field-collected populations from the US Corn Belt. The purpose of this paper is to further investigate the relationship between one of these resistance-linked markers and the causal resistance locus. Using data from laboratory bioassays and field experiments, we show that one allele of the resistance-linked marker increased in frequency in response to selection, but was not perfectly linked to the causal resistance allele. By coupling the response to selection data with a genetic model of the linkage between the marker and the causal allele, we developed a model that allowed marker allele frequencies to be mapped to causal allele frequencies. We then used this model to estimate the resistance allele frequency distribution in the US Corn Belt based on collections from 40 populations. These estimates suggest that chromosome 8 Cry3Bb1 resistance allele frequency was generally low (<10%) for 65% of the landscape, though an estimated 13% of landscape has relatively high (>25%) resistance allele frequency.

scholarly journals QTL Mapping for Gummy Stem Blight Resistance in Watermelon (Citrullus spp.)

Plants ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 500
Author(s):  
Eun Su Lee ◽  
Do-Sun Kim ◽  
Sang Gyu Kim ◽  
Yun-Chan Huh ◽  
Chang-Gi Back ◽  
...  
Keyword(s):  
Chromosome 8 ◽  
Chromosome 6 ◽  
Potential Candidate ◽  
Stem Blight ◽  
Gummy Stem Blight ◽  
F2 Population ◽  
Leaf Lesion ◽  
Phenotypic Variations ◽  
A Minor ◽  
Selection Of

Watermelon (Citrulluslanatus) is an economically important fruit crop worldwide. Gummy stem blight (GSB) is one of the most damaging diseases encountered during watermelon cultivation. In the present study, we identified quantitative trait loci (QTLs) associated with GSB resistance in an F2 population derived from a cross between maternal-susceptible line ‘920533’ (C. lanatus) and the paternal-resistant line ‘PI 189225’ (C. amarus). The resistance of 178 F2 plants was assessed by two different evaluation methods, including leaf lesion (LL) and stem blight (SB). To analyze the QTLs associated with GSB resistance, a linkage map was constructed covering a total genetic distance of 1070.2 cM. QTL analysis detected three QTLs associated with GSB resistance on chromosome 8 and 6. Among them, two QTLs, qLL8.1 and qSB8.1 on chromosome 8 identified as major QTLs, explaining 10.5 and 10.0% of the phenotypic variations localizing at same area and sharing the same top markers for both LL and SB traits, respectively. A minor QTL, qSB6.1, explains 9.7% of phenotypic variations detected on chromosome 6 only for the SB trait. High-throughput markers were developed and validated for the selection of resistant QTLs using watermelon accessions, and commercial cultivars. Four potential candidate genes were predicted associated with GSB resistance based on the physical location of flanking markers on chromosome 8. These findings will be helpful for the development of watermelon cultivars resistant to GSB.

Depression Severity Is Related to Less Gross Body Movement: A Motion Energy Analysis

2021 ◽  
pp. 1-7
Author(s):  
Anna Sandmeir ◽  
Désirée Schoenherr ◽  
Uwe Altmann ◽  
Christoph Nikendei ◽  
Henning Schauenburg ◽  
...  
Keyword(s):  
Depressive Disorder ◽  
Energy Analysis ◽  
Rating Scale ◽  
Body Movement ◽  
Psychomotor Retardation ◽  
Diagnostic Interview ◽  
Depression Severity ◽  
Depressed Patients ◽  
Motion Energy ◽  
Objectively Measured

Psychomotor retardation is a well-known clinical phenomenon in depressed patients that can be measured in various ways. This study aimed to investigate objectively measured gross body movement (GBM) during a semi-structured clinical interview in patients with a depressive disorder and its relation with depression severity. A total of 41 patients with a diagnosis of depressive disorder were assessed both with a clinician-rated interview (Hamilton Depression Rating Scale) and a self-rating questionnaire (Beck Depression Inventory-II) for depression severity. Motion energy analysis (MEA) was applied on videos of additional semi-structured clinical interviews. We considered (partial) correlations between patients’ GBM and depression scales. There was a significant, moderate negative correlation between both measures for depression severity (total scores) and GBM during the diagnostic interview. However, there was no significant correlation between the respective items assessing motor symptoms in the clinician-rated and the patient-rated depression severity scale and GBM. Findings imply that neither clinician ratings nor self-ratings of psychomotor symptoms in depressed patients are correlated with objectively measured GBM. MEA thus offers a unique insight into the embodied symptoms of depression that are not available via patients’ self-ratings or clinician ratings.

scholarly journals Minireview: Thyroid Hormone Transporters: The Knowns and the Unknowns

2011 ◽  
Vol 25 (1) ◽  
pp. 1-14 ◽  
Author(s):  
W. Edward Visser ◽  
Edith C. H. Friesema ◽  
Theo J. Visser
Keyword(s):  
Thyroid Hormone ◽  
Organic Anion ◽  
Psychomotor Retardation ◽  
Cellular Level ◽  
Monocarboxylate Transporter ◽  
Causative Role ◽  
Organic Anion Transporting Polypeptide ◽  
Neurological Abnormalities ◽  
Knockout Animals

The effects of thyroid hormone (TH) on development and metabolism are exerted at the cellular level. Metabolism and action of TH take place intracellularly, which require transport of the hormone across the plasma membrane. This process is mediated by TH transporter proteins. Many TH transporters have been identified at the molecular level, although a few are classified as specific TH transporters, including monocarboxylate transporter (MCT)8, MCT10, and organic anion-transporting polypeptide 1C1. The importance of TH transporters for physiology has been illustrated dramatically by the causative role of MCT8 mutations in males with psychomotor retardation and abnormal serum TH concentrations. Although Mct8 knockout animals have provided insight in the mechanisms underlying parts of the endocrine phenotype, they lack obvious neurological abnormalities. Thus, the pathogenesis of the neurological abnormalities in males with MCT8 mutations is not fully understood. The prospects of identifying other transporters and transporter-based syndromes promise an exciting future in the TH transporter field.

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