scholarly journals New mechanism of partial duplication and deletion of chromosome 8: A case report

2021 ◽  
Vol 9 (24) ◽  
pp. 7139-7145
Author(s):  
Yan Jiang ◽  
Shuang Tang ◽  
Fang He ◽  
Jue-Xin Yuan ◽  
Zhu Zhang
Keyword(s):  
Case Report ◽  
Chromosome 8 ◽  
Partial Duplication

Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome

2021 ◽  
Vol 64 (1) ◽  
pp. 104118
Author(s):  
Minh-Tuan Huynh ◽  
Anne-Sophie Riteau ◽  
Kamran Moradkhani ◽  
Olivier Pichon ◽  
Sébastien Richard ◽  
...  
Keyword(s):  
Case Report ◽  
Chromosome 8 ◽  
Deletion Syndrome ◽  
Inverted Duplication ◽  
Structural Abnormalities

Partial duplication of Xp: A case report and review of previously reported cases

1991 ◽  
Vol 40 (3) ◽  
pp. 280-283 ◽  
Author(s):  
Herman E. Wyandt ◽  
Lucille Bugeau-Michaud ◽  
James C. Skare ◽  
Aubrey Milunsky
Keyword(s):  
Case Report ◽  
Partial Duplication

scholarly journals De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

2010 ◽  
Vol 13 (1) ◽  
pp. 35-37
Author(s):  
F Nasiri ◽  
F Mahjoubi ◽  
G Babamohammadi
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
Cytogenetic Analysis ◽  
De Novo ◽  
Chromosome 7 ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Upper Lip ◽  
Upper Eyelid ◽  
Partial Duplication

De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the LiteratureCytogenetic analysis of a 1-year-old boy with multiple congenital anomalies revealed partial duplication of the chromosome 7q21.2-q32 band region. His main features included: frontal bossing, small jaw, low-set ears, deep-set eyes, strabismus, drooping left upper eyelid, widely-spaced eyes, short nose, long philtrum, down-curved upper lip, camptodactyly and hypotonia.

scholarly journals HIGHER RIGHT KIDNEY AND PARTIAL DUPLICATION OF LEFT URETER: A CASE REPORT

2017 ◽  
Vol 5 (2.2) ◽  
pp. 3788-3790
Author(s):  
Chiman Kumari ◽  
◽  
Rohini Motwani ◽  
Saroj Kaler Jhajhria ◽  
Neerja Rani ◽  
...  
Keyword(s):  
Case Report ◽  
Left Ureter ◽  
Partial Duplication

Chromosome 8 Polysomy Accounting for MYC Over-Expression in Angiosarcoma Arising as Somatic-Type Malignancy in Metastatic Teratoma. Case Report

2021 ◽  
pp. 106689692110677
Author(s):  
A. Cristina Vargas ◽  
Peter Grimison ◽  
Christopher Joy ◽  
Bernadette Garrone ◽  
Fiona Bonar ◽  
...  
Keyword(s):  
Case Report ◽  
Surrogate Marker ◽  
Chromosome 8 ◽  
High Grade ◽  
Clinical Scenario ◽  
Germ Cell Tumours ◽  
Over Expression ◽  
Post Irradiation ◽  
Chronic Lymphedema

MYC over-expression by immunohistochemistry (IHC) is utilised in routine pathology practice as a surrogate marker for MYC amplification, which plays a key oncogenic role in post-irradiation and chronic lymphedema-associated angiosarcoma. We present the case of a 32-year old male, who presented with high-grade angiosarcoma arising in a background of metastatic testicular teratoma. IHC for MYC showed strong nuclear expression in the angiosarcoma cells prompting the consideration of post-irradiation-induced angiosarcoma but our patient did not undergo radiotherapy. Fluorescence in-situ hybridization (FISH) excluded MYC amplification and instead showed Chromosome 8 polysomy, which accounted for the strong MYC IHC expression present, not previously described in the context of germ cell tumours. The occurrence of MYC over-expression due to polysomy illustrates a novel clinical scenario (angiosarcoma arising as somatic malignancy) where strong MYC IHC expression can be found in the absence of underlying amplification or prior radiotherapy exposure.

Supernumerary ring chromosome 8: Clinical and molecular cytogenetic characterization in a case report

2004 ◽  
Vol 130A (3) ◽  
pp. 288-294 ◽  
Author(s):  
Eliana Demori ◽  
Raffaella Devescovi ◽  
Daniela Gambel Benussi ◽  
Silvia Dolce ◽  
Marco Carrozzi ◽  
...  
Keyword(s):  
Case Report ◽  
Ring Chromosome ◽  
Chromosome 8 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Partial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report

2011 ◽  
Vol 133 (1) ◽  
pp. 78-83 ◽  
Author(s):  
R. Quiroga ◽  
S. Monfort ◽  
S. Oltra ◽  
I. Ferrer-Bolufer ◽  
M. Roselló ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Partial Duplication ◽  
Normal Phenotype ◽  
Edwards Syndrome
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