Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis

2007 ◽  
Vol 16 (4) ◽  
pp. 253-256 ◽  
Author(s):  
Shashirekha Shetty ◽  
Kym M. Boycott ◽  
Tanya L. Gillan ◽  
Kathy Bowser ◽  
Jillian S. Parboosingh ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Balanced Translocation

scholarly journals Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

2001 ◽  
Vol 95 (3-4) ◽  
pp. 183-188 ◽  
Author(s):  
Q. Wang ◽  
A.A. Timur ◽  
P. Szafranski ◽  
A. Sadgephour ◽  
V. Jurecic ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Overgrowth Syndrome ◽  
De Novo Translocation

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum

2010 ◽  
Vol 53 (2) ◽  
pp. 104-107 ◽  
Author(s):  
Caroline Rooryck ◽  
Yen VuPhi ◽  
Noui Souakri ◽  
Ingrid Burgelin ◽  
Robert Saura ◽  
...  
Keyword(s):  
De Novo ◽  
Balanced Translocation ◽  
Oculoauriculovertebral Spectrum

Clinical and molecular characterization of de novo loss of function variants inHNRNPU

2017 ◽  
Vol 173 (10) ◽  
pp. 2680-2689 ◽  
Author(s):  
Magalie S. Leduc ◽  
Hsiao-Tuan Chao ◽  
Chunjing Qu ◽  
Magdalena Walkiewicz ◽  
Rui Xiao ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Loss Of Function

Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98

2017 ◽  
Vol 152 (3) ◽  
pp. 117-121
Author(s):  
My Linh Thibodeau ◽  
Michelle Steinraths ◽  
Lindsay Brown ◽  
Zheyuan Zong ◽  
Naomi Shomer ◽  
...  
Keyword(s):  
De Novo Assembly ◽  
De Novo ◽  
Chromosome Rearrangement ◽  
Healthy Woman ◽  
Asian Woman ◽  
Balanced Translocation ◽  
Gene Desert ◽  
Fusion Event ◽  
Translocation Breakpoints

A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the age of 3 years. Whole-genome sequencing was performed on genomic maternal DNA isolated from blood. A targeted de novo assembly was then conducted with ABySS for chromosomes 11 and 12. Sanger sequencing was used to validate the translocation breakpoints. As a result, genomic characterization of chromosomes 11 and 12 revealed that the 11p breakpoint disrupted the NUP98 gene in intron 1, causing a separation of the promoter and transcription start site from the rest of the gene. The translocation breakpoint on chromosome 12q was located in a gene desert. NUP98 has not yet been associated with renal AML pathogenesis, but somatic NUP98 alterations are recurrently implicated in hematological malignancies, most often following a gene fusion event. We also found evidence for complex structural events involving chromosome 12, which appear to disrupt the TDG gene. We identified a TDGP1 partially processed pseudogene at 12p12.1, which adds complexity to the de novo assembly. In conclusion, this is the first report of a germline constitutional structural chromosome rearrangement disrupting NUP98 that occurred in a generally healthy woman with bilateral renal AML.

Molecular Characterization of Younger Indian Patients with De Novo Myelodysplastic Syndromes: AIIMS Experience

2017 ◽  
Vol 55 ◽  
pp. S138
Author(s):  
R. Chaubey ◽  
S. Sazawal ◽  
M. Mahapatra ◽  
S. Chhikara ◽  
R. Saxena
Keyword(s):  
Molecular Characterization ◽  
Myelodysplastic Syndromes ◽  
De Novo ◽  
Indian Patients

scholarly journals Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature

2016 ◽  
Vol 9 (1) ◽  
Author(s):  
Elisa Tassano ◽  
Mariasavina Severino ◽  
Silvia Rosina ◽  
Riccardo Papa ◽  
Domenico Tortora ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Review Of The Literature

Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations

1998 ◽  
Vol 80 (3) ◽  
pp. 273-280 ◽  
Author(s):  
Bruno Delobel ◽  
Val�rie Delannoy ◽  
Giorgio Pini ◽  
Michele Zapella ◽  
Marc Tardieu ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Rett Syndrome ◽  
De Novo
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