De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation

AbstractTrisomy 9p syndrome is the fourth most frequent chromosome aberration seen in infants. Duplication of the critical region 9p22p24 leads to mental retardation, psychomotor delay, and craniofacial and digital anomalies. We report a 2-year-old Ecuadorian girl with Trisomy 9p syndrome. Although her phenotype shares characteristics of Noonan syndrome, Giemsa trypsin banding technique shows there is an extra chromosomal segment on chromosome 14, and array analysis shows that it belongs to a duplication of 38 Mb of 9p13.1p24.3. Fluorescence in situ hybridization analysis detected three signals from 9p chromosome. The duplication is de novo, being another unique case of the few reported in the literature.

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Giant Cell Carcinosarcoma of the Parotid Gland With a PLAG 1 Translocation in Association With a Pleomorphic Adenoma With HMGA2 Translocation

American Journal of Clinical Pathology ◽

10.1093/ajcp/aqaa104 ◽

2020 ◽

Vol 154 (6) ◽

pp. 811-815

Author(s):

Levon Katsakhyan ◽

Virginia A LiVolsi ◽

Ara A Chalian ◽

Paul J Zhang

Keyword(s):

Salivary Gland ◽

In Situ Hybridization ◽

Parotid Gland ◽

Giant Cell ◽

Pleomorphic Adenoma ◽

De Novo ◽

Sarcomatous Component ◽

Gland Tumor ◽

Parotid Gland Tumor

Abstract Objectives Carcinosarcomas of the salivary gland are rare neoplasms and have been described arising de novo or in association with pleomorphic adenoma (PA). PLAG1 and HMGA2 translocations are known to occur in PAs and carcinomas ex PA but are mutually exclusive. Methods We report a case of a carcinosarcoma in the parotid gland of a 77-year-old man with unusual anaplastic sarcomatoid giant cell morphology. Results Microscopically, a small separate PA was found adjacent to the carcinosarcoma. By conventional notion, the PA and carcinosarcoma would be considered related, as carcinosarcomas are well known to arise from PAs (carcinosarcoma ex PA). However, fluorescence in situ hybridization (FISH) assay demonstrated PLAG1 translocation in the carcinosarcoma and HMGA2 translocation in the separate PA. Conclusions These findings support that the carcinosarcoma likely originated from another PA with a PLAG1 translocation or de novo but not from the coexisting PA harboring a different translocation. To our knowledge, the case is the first to demonstrate PLAG1 translocation by FISH in a sarcomatous component of any parotid gland tumor, which may help better classify these tumors. In addition, multiple PAs are commonly found in the salivary gland, and to our knowledge, our case is the first to demonstrate that the same parotid gland can host PAs and PA-related tumors with different translocations.

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Recovery of a telomere-truncated chromosome via a compensating translocation in maize

Genome ◽

10.1139/g10-108 ◽

2011 ◽

Vol 54 (3) ◽

pp. 184-195 ◽

Cited By ~ 9

Author(s):

Robert T. Gaeta ◽

Tatiana V. Danilova ◽

Changzeng Zhao ◽

Rick E. Masonbrink ◽

Morgan E. McCaw ◽

...

Keyword(s):

In Situ Hybridization ◽

Fluorescent In Situ Hybridization ◽

Transgene Expression ◽

De Novo ◽

Extra Chromosome ◽

Single Gene ◽

B Chromosomes ◽

Chromosome 1 ◽

Chromosome 6

Maize-engineered minichromosomes are easily recovered from telomere-truncated B chromosomes but are rarely recovered from A chromosomes. B chromosomes lack known genes, and their truncation products are tolerated and transmitted during meiosis. In contrast, deficiency gametes resulting from truncated A chromosomes prevent their transmission. We report here a de novo compensating translocation that permitted recovery of a large truncation of chromosome 1 in maize. The truncation (trunc-1) and translocation with chromosome 6 (super-6) occurred during telomere-mediated truncation experiments and were characterized using single-gene fluorescent in situ hybridization (FISH) probes. The truncation contained a transgene signal near the end of the broken chromosome and transmitted together with the compensating translocation as a heterozygote to approximately 41%–55% of progeny. Transmission as an addition chromosome occurred in ~15% of progeny. Neither chromosome transmitted through pollen. Transgene expression (Bar) cosegregated with trunc-1 transcriptionally and phenotypically. Meiosis in T1 plants revealed eight bivalents and one tetravalent chain composed of chromosome 1, trunc-1, chromosome 6, and super-6 in diplotene and diakinesis. Our data suggest that de novo compensating translocations allow recovery of truncated A chromosomes by compensating deficiency in female gametes and by affecting chromosome pairing and segregation. The truncated chromosome can be maintained as an extra chromosome or together with the super-6 as a heterozygote.

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Methionine-stabilized nonclassical growth within self-assembled de novo gold nanoparticles in conjunction with secondary nucleation inhibition

10.21203/rs.3.rs-961831/v1 ◽

2021 ◽

Author(s):

Jitendra Sahu ◽

Shahbaz Lone ◽

Kalyan Sadhu

Keyword(s):

Self Assembly ◽

De Novo ◽

Noble Metal Nanoparticles ◽

Secondary Nucleation ◽

Unique Case ◽

Primary Particles ◽

Growth Reaction ◽

Aurophilic Interaction ◽

Key Steps

Abstract The key steps for seed mediated growth of noble metal nanoparticles involve primary and secondary nucleation, which depends upon the energy barrier and ligand supersaturation standards of the medium. Herein we report the unique case of methionine (Met) controlled growth reaction, which rather proceeds via impeding secondary nucleation in presence of citrate stabilized gold nanoparticle (AuNP). The interaction between freshly generated Au+ and thioether group of Met in the medium restricts the secondary nucleation process involving further Au+ reduction. This incomplete conversion of Au+ results in a significant enhancement of the zeta (ζ) potential even at low concentration of Met. Furthermore, the aurophilic interaction of Au+ controls the self-assembly process of the in situ generated emissive nucleated particles. Nucleation of primary particles on seed surface, their segregation and time dependent conversion to larger particles within self-assembly confirm the nonclassical growth, which has further been explored with Met containing bio-inspired peptides.

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