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Case Report - Down syndrome with Fragment X - A case Report, 12/2002
This article reports a case of four-month-old female infant referred to Division of Human Genetics, St. Johns' Medical College, for karyotyping with suspicion... 
Isochromosome, trisomy21, fragment X, delX
Journal
08/2012
Primary amenorrhea refers to absence of spontaneous menarche even after the age of 16. Cytogenetic analysis in two cases with primary amenorrhea, short... 
Amenorrhea | short stature | isochromosome X | turner syndrome
Web Resource
Mediterranean Journal of Hematology and Infectious Diseases, ISSN 2035-3006, 2017, Volume 9, Issue 1, pp. e2017066 - e2017066
It has been suggested that myeloid neoplasms with isolated isochromosome 17q[MN i(17q)] comprise a distinct entity with poor prognosis. However, literature... 
Spliceosome | MDS | Isochromosome | isochromosome | spliceosome
Journal Article
Atlas of Genetics and Cytogenetics in Oncology and Haematology, ISSN 1768-3262, 2018, Volume 22, Issue 10, pp. 435 - 441
Journal Article
02/2012
Isochromosome is a structurally unbalanced chromosome consisting of two short arms or two long arms, which are derived by abnormal centromere division or... 
mental retardation | Cytogenetic | mosaicism | isochromosome X | Kabuki syndrome | multiple malformation
Web Resource
Anales de Pediatria, ISSN 1695-4033, 2014, Volume 82, Issue 1, pp. e131 - e134
Turner syndrome is diagnosed by the combination of certain phenotypic characte-ristics with the absence of one of the X chromosome. This absence may be total... 
Turner | Isochromosome | Karyotype
Journal Article
Cancer Discovery, ISSN 2159-8274, 04/2017, Volume 7, Issue 4, pp. 369 - 379
Hepatosplenic T-cell lymphoma (HSTL) is a rare and lethal lymphoma; the genetic drivers of this disease are unknown. Through whole-exome sequencing of 68... 
B-CELLS | ISOCHROMOSOME 7Q | GENOMIC LANDSCAPE | BURKITT-LYMPHOMA | ONCOLOGY | THERAPEUTIC TARGETS | GAMMA-DELTA-T | HISTONE-MODIFYING GENES | SOMATIC MUTATIONS | RHOA | H3K36 TRIMETHYLATION | Proto-Oncogene Proteins p21(ras) | Humans | Middle Aged | Child, Preschool | Liver Neoplasms - complications | Male | Lymphoma, T-Cell - complications | Tumor Suppressor Protein p53 - genetics | Young Adult | Splenic Neoplasms - complications | Base Sequence | Tumor Suppressor Proteins - genetics | Adult | Female | Liver Neoplasms - pathology | Child | DNA Helicases - genetics | DNA-Binding Proteins | Histone-Lysine N-Methyltransferase - genetics | Liver Neoplasms - genetics | Splenic Neoplasms - genetics | Lymphoma, T-Cell - genetics | Enhancer of Zeste Homolog 2 Protein | Exome - genetics | Splenic Neoplasms - pathology | Adolescent | Lymphoma, T-Cell - pathology | Aged | Transcription Factors | Index Medicus | Life Sciences | Cancer | STAT5B | genetic mutations | HSTL | DERL7 | SETD2 | diffuse large B cell lymphoma | JAK-STAT | germinal center B cell | lymphoma | Burkitt lymphoma | survival | STAT3 | DERL2 | PIK3CD | isochromosome | FFPE exome sequencing | exome sequencing | deep sequencing | mantle cell lymphoma | peripheral T cell lymphoma | angioimmunoblastic T cell lymphoma | high throughput sequencing | copy number | hepatosplenic T cell lymphoma
Journal Article
Journal Article
Blood, ISSN 0006-4971, 06/2012, Volume 119, Issue 24, pp. 5795 - 5806
The pathogenesis of hepatosplenic T-cell lymphoma (HSTL), a rare entity mostly derived from gamma delta T cells and usually with a fatal outcome, remains... 
GAMMA-DELTA | TYROSINE KINASE | ALPHA-BETA | NON-HODGKINS-LYMPHOMA | NK-CELL | PI EXPRESSION | RECEPTOR | DRUG-RESISTANCE | HEMATOLOGY | NF-KAPPA-B | CLINICOPATHOLOGICAL ENTITY | Crystallins - metabolism | Protein-Tyrosine Kinases - metabolism | Humans | Middle Aged | Gene Expression Regulation, Neoplastic | Molecular Sequence Data | Male | Receptors, Antigen, T-Cell, gamma-delta - genetics | Gene Expression Profiling | Intracellular Signaling Peptides and Proteins - metabolism | Molecular Targeted Therapy | Young Adult | Base Sequence | Biomarkers, Tumor - metabolism | Adult | Female | Liver Neoplasms - pathology | Membrane Proteins - metabolism | Genes, Neoplasm - genetics | Syk Kinase | Cell Lineage - genetics | Splenic Neoplasms - drug therapy | Liver Neoplasms - genetics | Intracellular Signaling Peptides and Proteins - antagonists & inhibitors | Splenic Neoplasms - genetics | Liver Neoplasms - drug therapy | Lymphoma, T-Cell - genetics | Receptors, Antigen, T-Cell, alpha-beta - genetics | Isochromosomes - genetics | Drug Resistance, Neoplasm - genetics | Lymphoma, T-Cell - drug therapy | Splenic Neoplasms - pathology | Chromosome Aberrations | Lymphoma, T-Cell - pathology | Aged | Biomarkers, Tumor - genetics | Cluster Analysis | Protein-Tyrosine Kinases - antagonists & inhibitors | Index Medicus | Abridged Index Medicus | pathology | Lymphoma, T-Cell | Genes, Neoplasm | Drug Resistance, Neoplasm | Isochromosomes | Liver Neoplasms | genetics | Crystallins | Receptors, Antigen, T-Cell, alpha-beta | drug therapy | Tumor Markers, Biological | Intracellular Signaling Peptides and Proteins | antagonists & inhibitors | Membrane Proteins | Cell Lineage | Receptors, Antigen, T-Cell, gamma-delta | metabolism | Protein-Tyrosine Kinases | Splenic Neoplasms
Journal Article
Advances In Anatomic Pathology, ISSN 1072-4109, 07/2019, Volume 26, Issue 4, pp. 241 - 245
Testicular germ cell tumors are a diverse group of neoplasms, consisting of the prepubertal type 1 tumors, pure teratoma, and pure yolk sac tumor, the type 2... 
spermatocytic tumor | seminoma | GCNIS | germ cell tumor | PRECURSOR | TESTIS | ISOCHROMOSOME 12P | PATHOLOGY | YOLK-SAC TUMOR
Journal Article
CLINICAL GENITOURINARY CANCER, ISSN 1558-7673, 04/2017, Volume 15, Issue 2, pp. 188 - 191
Primary choriocarcinoma of the urinary bladder is a rare entity, and should be distinguished from urothelial carcinoma with trophoblastic differentiation. The... 
RENAL PELVIS | URINARY-BLADDER | Extragonadal germ cell tumor | HUMAN CHORIONIC-GONADOTROPIN | TUMORS | Isochromosome | ORIGIN | ONCOLOGY | Cytogenetics/fluorescence in situ hybridization | 12p (112p) | Bladder choriocarcinoma | ISOCHROMOSOME 12P | UROLOGY & NEPHROLOGY | TRANSITIONAL CELL-CARCINOMA | Urothelial carcinoma | OF-THE-LITERATURE | GENETIC-EVIDENCE
Journal Article
BLOOD, ISSN 0006-4971, 12/2003, Volume 102, Issue 13, pp. 4261 - 4269
We report on the characteristics of 21 patients with hepatosplenic gammadelta T-cell lymphoma (HSgammadeltaTCL), an entity recognized since 1994 in the Revised... 
ISOCHROMOSOME 7Q | IMMUNOCOMPROMISED PATIENTS | ALPHA-BETA | PLASMODIUM-FALCIPARUM | IN-SITU HYBRIDIZATION | NON-HODGKINS-LYMPHOMA | LYMPHOPROLIFERATIVE DISORDER | GAMMA/DELTA-LYMPHOMA | HEMATOLOGY | ANTIGEN RECEPTOR | EPSTEIN-BARR-VIRUS
Journal Article
Journal Article
Anales de Pediatría, ISSN 1695-4033, 2014, Volume 82, Issue 1, pp. e131 - e134
Resumen El síndrome de Turner se diagnostica mediante la combinación de ciertas características fenotípicas con la ausencia de un cromosoma X . Esta ausencia... 
Pediatrics | Isocromosoma | Cariotipo | Isochromosome | Karyotype | Turner
Journal Article
Atlas of Genetics and Cytogenetics in Oncology and Haematology, ISSN 1768-3262, 2018, Volume 22, Issue 8, pp. 336 - 340
Journal Article
Molecular cytogenetics, ISSN 1755-8166, 01/2019, Volume 12, Issue 1, pp. 39 - 39
BackgroundPallister-Killian syndrome (PKS) (OMIM:#601803) is a rare sporadic genetic disorder characterized by multi-malformations which is caused by the... 
Prenatal diagnosis | Pallister-Killian syndrome | Cord blood | Isochromosome 12p | Ultrasound findings
Journal Article
Journal Article
Cancer Letters, ISSN 0304-3835, 11/2017, Volume 409, pp. 42 - 48
Journal Article
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