Molecular cytogenetic characterization of a complex rearrangement involving chromosomes 9 and 22 in a case of Ph-negative chronic myeloid leukemia

2002 ◽  
Vol 136 (2) ◽  
pp. 141-145 ◽  
Author(s):  
Clelia Tiziana Storlazzi ◽  
Luisa Anelli ◽  
Cecilia Surace ◽  
Angelo Lonoce ◽  
Antonella Zagaria ◽  
...  
Keyword(s):  
Chronic Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Molecular Cytogenetic ◽  
Complex Rearrangement ◽  
Cytogenetic Characterization

Molecular cytogenetic characterization of a novel additional chromosomal aberration in blast crisis of a Ph-positive chronic myeloid leukemia

2002 ◽  
Vol 134 (2) ◽  
pp. 109-113 ◽  
Author(s):  
Clelia Tiziana Storlazzi ◽  
Luisa Anelli ◽  
Cecilia Surace ◽  
Mariano Rocchi ◽  
Francesco Albano ◽  
...  
Keyword(s):  
Chronic Myeloid Leukemia ◽  
Chromosomal Aberration ◽  
Myeloid Leukemia ◽  
Blast Crisis ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Molecular cytogenetic characterization of Philadelphia-negative rearrangements in chronic myeloid leukemia patients

2011 ◽  
Vol 137 (9) ◽  
pp. 1329-1336 ◽  
Author(s):  
Ayda Bennour ◽  
Hatem Bellâaj ◽  
Yosra Ben Youssef ◽  
Moez Elloumi ◽  
Abderrahim Khelif ◽  
...  
Keyword(s):  
Chronic Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

scholarly journals Cryptic BCR-ABL fusion gene as variant rearrangement in chronic myeloid leukemia: molecular cytogenetic characterization and influence on TKIs therapy

Oncotarget ◽  
2017 ◽  
Vol 8 (18) ◽  
pp. 29906-29913 ◽  
Author(s):  
Simona Luatti ◽  
Carmen Baldazzi ◽  
Giulia Marzocchi ◽  
Gaia Ameli ◽  
Maria Teresa Bochicchio ◽  
...  
Keyword(s):  
Chronic Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Fusion Gene ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

2020 ◽  
pp. 41-42
Author(s):  
Д.А. Юрченко ◽  
М.Е. Миньженкова ◽  
Е.Л. Дадали ◽  
Н.В. Шилова
Keyword(s):  
Mental Retardation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Formation Mechanisms ◽  
Agenesis Of Corpus Callosum ◽  
Molecular Cytogenetic ◽  
Inverted Duplication ◽  
Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

scholarly journals Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1

2018 ◽  
Vol Volume 11 ◽  
pp. 77-80 ◽  
Author(s):  
Isabel Ochando ◽  
Melanie Cristine Alonzo Martínez ◽  
Ana María Serrano ◽  
Antonio Urbano ◽  
Eduardo Cazorla ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization
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