trisomy 19q

19qトリソミー

WordNet

1. chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell

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• 1. ダウン症候群およびトリソミー18のスクリーニングのための、妊娠初期のcombined testおよびintegrated test first trimester combined test and integrated tests for screening for down syndrome and trisomy 18
• 2. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
• 3. 胎児異数性に関連する超音波所見 sonographic findings associated with fetal aneuploidy
• 4. 乏突起膠腫の臨床的特徴、病理、および予後因子 clinical features pathology and prognostic factors for oligodendroglial tumors
• 5. Classification and pathologic diagnosis of gliomas

English Journal

• Partial duplication of chromosome 19 associated with syndromic duane retraction syndrome.

• Abu-Amero KK1, Kondkar AA, Al Otaibi A, Alorainy IA, Khan AO, Hellani AM, Oystreck DT, Bosley TM.
• Ophthalmic genetics.Ophthalmic Genet.2015 Mar;36(1):14-20. doi: 10.3109/13816810.2013.827218. Epub 2013 Aug 19.
• BACKGROUND: To evaluate possible monogenic and chromosomal anomalies in a patient with unilateral Duane retraction syndrome, modest dysmorphism, cerebral white matter abnormalities, and normal cognitive function.MATERIALS AND METHODS: Performing high-resolution array comparative genomic hybridizatio
• PMID 23952617

• De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly.

• Resta N, De Cosmo L, Susca FC, Capodiferro D, Nardone AM, Pastorivo D, Bertoli M, Serlenga C, Burattini M, Schettini F, Laforgia N.
• American journal of medical genetics. Part A.Am J Med Genet A.2013 Mar;161A(3):632-6. doi: 10.1002/ajmg.a.35777. Epub 2013 Feb 7.
• PMID 23401394

• A case of mosaic trisomy 19q12-q13.2 with high BMI, macrocephaly, and speech delay: does USF2 determine size in the 19q phenotypes?

• Wilson BT1, Newby R, Watts K, Hellens SW, Zwolinski SA, Splitt MP.
• Clinical dysmorphology.Clin Dysmorphol.2012 Jan;21(1):33-6. doi: 10.1097/MCD.0b013e32834e7f9f.
• Hall et al. (2010) describe a boy with mosaic trisomy of the proximal part of 19q, with obesity, macrocephaly and global developmental delay. The patient is interesting with regard to his cytogenetic abnormality, which is smaller than those previously reported, and does not include the candidate obe
• PMID 22107929

Japanese Journal

• Hidden abnormalities and novel classification of t(15;17) acute promyelocytic leukemia (APL) based on genomic alterations

• Akagi Tadayuki,Shih Lee-Yung,Kato Motohito,Kawamata Norihisa,Yamamoto Go,Sanada Masashi,Okamoto Ryoko,Miller Carl W.,Liang Der-Cherng,Ogawa Seishi,Koeffler H.Phillip
• Blood 113(8), 1741-1748, 2009-02-19
• … Copy-number-neutral loss of heterozygosity (CNN-LOH) was identified at chromosomes 10q (3 cases), 11p (3 cases), and 19q (1 case). … Nineteen samples (40%) showed either one or more genomic abnormalities: 8 samples (17%) had trisomy 8 either with or without an additional duplication, deletion, or CNN-LOH (+8 group); … and 11 samples (23%) had genomic abnormalities without trisomy 8 (other abnormalities group). …
• NAID 120001249804

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★リンクテーブル★

リンク元	「19qトリソミー」

「19qトリソミー」

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英

trisomy 19q

関

19番染色体