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PubMed:21998854 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 62-65 gene:3342 denotes CGH
T1 30-42 disease:C0795832 denotes tetrasomy 9p
R1 T0 T1 associated_with CGH,tetrasomy 9p

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 132-149 HP_0000078 denotes genital anomalies

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-66 Sentence denotes Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH.
TextSentencer_T2 67-176 Sentence denotes We report on a patient with a mild clinical phenotype, including genital anomalies, with mosaic tetrasomy 9p.
TextSentencer_T3 177-367 Sentence denotes Karyotype analysis of peripheral blood lymphocytes detected a supernumerary isochromosome 9p present in every cell, with the initial result being reported as tetrasomy 9p in non-mosaic form.
TextSentencer_T4 368-599 Sentence denotes However,array Comparative Genomic Hybridization (aCGH) studies on DNA extracted from peripheral blood lymphocytes and saliva showed that the patient had tissue-specific mosaicism, with a lower level of abnormal cells in the saliva.
TextSentencer_T5 600-750 Sentence denotes These results correlate with the patient's clinical features as non-mosaic cases of tetrasomy 9p have a more severe, often lethal, clinical phenotype.
TextSentencer_T6 751-887 Sentence denotes If non-mosaic tetrasomy 9p is identified in a peripheral blood culture then examination of a different tissue type should be undertaken.
TextSentencer_T7 888-1093 Sentence denotes Array CGH may be used as an alternative to karyotype analysis to estimate the level of mosaicism, and may eliminate the need for invasive skin biopsy as samples such as buccal smear and saliva can be used.
TextSentencer_T8 1094-1314 Sentence denotes Array CGH is able to detect mosaicism, establish the euchromatic content of supernumerary marker chromosomes, and identify imbalances elsewhere in the genome allowing more accurate counselling and prognosis for patients.
T1 0-66 Sentence denotes Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH.
T2 67-176 Sentence denotes We report on a patient with a mild clinical phenotype, including genital anomalies, with mosaic tetrasomy 9p.
T3 177-367 Sentence denotes Karyotype analysis of peripheral blood lymphocytes detected a supernumerary isochromosome 9p present in every cell, with the initial result being reported as tetrasomy 9p in non-mosaic form.
T4 368-599 Sentence denotes However,array Comparative Genomic Hybridization (aCGH) studies on DNA extracted from peripheral blood lymphocytes and saliva showed that the patient had tissue-specific mosaicism, with a lower level of abnormal cells in the saliva.
T5 600-750 Sentence denotes These results correlate with the patient's clinical features as non-mosaic cases of tetrasomy 9p have a more severe, often lethal, clinical phenotype.
T6 751-887 Sentence denotes If non-mosaic tetrasomy 9p is identified in a peripheral blood culture then examination of a different tissue type should be undertaken.
T7 888-1093 Sentence denotes Array CGH may be used as an alternative to karyotype analysis to estimate the level of mosaicism, and may eliminate the need for invasive skin biopsy as samples such as buccal smear and saliva can be used.
T8 1094-1314 Sentence denotes Array CGH is able to detect mosaicism, establish the euchromatic content of supernumerary marker chromosomes, and identify imbalances elsewhere in the genome allowing more accurate counselling and prognosis for patients.

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 0-6 http://purl.obolibrary.org/obo/UBERON_0000479 denotes Tissue
PD-UBERON-AE-B_T2 521-527 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T3 854-860 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T4 210-215 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T5 464-469 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T6 808-813 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T7 486-492 http://purl.obolibrary.org/obo/UBERON_0001836 denotes saliva
PD-UBERON-AE-B_T8 592-598 http://purl.obolibrary.org/obo/UBERON_0001836 denotes saliva
PD-UBERON-AE-B_T9 1074-1080 http://purl.obolibrary.org/obo/UBERON_0001836 denotes saliva

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 30-42 ORDO:3310 denotes tetrasomy 9p
AB1 163-175 ORDO:3310 denotes tetrasomy 9p
AB2 253-269 ORDO:3310 denotes isochromosome 9p
AB3 335-347 ORDO:3310 denotes tetrasomy 9p
AB4 684-696 ORDO:3310 denotes tetrasomy 9p
AB5 765-777 ORDO:3310 denotes tetrasomy 9p

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 0-6 http://purl.obolibrary.org/obo/UBERON_0000479 denotes Tissue
PD-UBERON-AE-B_T2 521-527 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T3 854-860 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T4 210-215 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T5 464-469 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T6 808-813 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T7 486-492 http://purl.obolibrary.org/obo/UBERON_0001836 denotes saliva
PD-UBERON-AE-B_T8 592-598 http://purl.obolibrary.org/obo/UBERON_0001836 denotes saliva
PD-UBERON-AE-B_T9 1074-1080 http://purl.obolibrary.org/obo/UBERON_0001836 denotes saliva