trisomy 8 mosaicism

8トリソミーモザイク

WordNet

1. the condition in which an organism has two or more cell populations that differ in genetic makeup
2. chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/10/06 09:17:47」(JST)

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Warkany syndrome refers to one of two genetic disorders, both named for Austrian-American geneticist Joseph Warkany:

• Warkany syndrome 1, an X-linked syndrome linked to reduced head size and mental retardation that is no longer diagnosed
• Trisomy 8, known as Warkany syndrome 2, a condition where a person has an extra copy of chromosome 8.

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• 1. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
• 2. 爪膝蓋骨症候群 nail patella syndrome
• 3. 絨毛膜サンプリング検査：リスク、合併症、および手技 chorionic villus sampling
• 4. 性染色体異常 sex chromosome abnormalities
• 5. 産科における染色体マイクロアレイの利用 use of chromosomal microarray in obstetrics

English Journal

• Confined trisomy 8 mosaicism of meiotic origin: a rare cause of aneuploidy in childhood cancer.

• Valind A1, Pal N, Asmundsson J, Gisselsson D, Holmquist Mengelbier L.
• Genes, chromosomes & cancer.Genes Chromosomes Cancer.2014 Jul;53(7):634-8. doi: 10.1002/gcc.22173. Epub 2014 Apr 12.
• Whether chromosome abnormalities observed in tumor cells may in some cases reflect low-grade somatic mosaicism for anomalies present already at zygote formation, rather than acquired somatic mutations, has for long remained a speculation. We here report a patient with Wilms tumor, where constitution
• PMID 24729308

• [Anesthetic management of a patient with 8 trisomy mosaic combined with cerebral palsy].

• Matsuda K, Yakushiji T, Ryo J, Higashimoto S, Sasaki K.
• Masui. The Japanese journal of anesthesiology.Masui.2014 Apr;63(4):459-61.
• We administered general anesthesia for a patient with 8 trisomy mosaic and cerebral palsy. Constitutional 8 trisomy mosaic has been associated with syndromic dysmorphology, corneal opacities, leukemia and trophoblastic disease. In Japan only 4 reports of general anesthesia related with 8 trisomy wer
• PMID 24783618

• Constitutional trisomy 8 mosaicism as a model for epigenetic studies of aneuploidy.

• Davidsson J1, Veerla S, Johansson B.
• Epigenetics & chromatin.Epigenetics Chromatin.2013 Jul 1;6(1):18. doi: 10.1186/1756-8935-6-18.
• BACKGROUND: To investigate epigenetic patterns associated with aneuploidy we used constitutional trisomy 8 mosaicism (CT8M) as a model, enabling analyses of single cell clones, harboring either trisomy or disomy 8, from the same patient; this circumvents any bias introduced by using cells from unrel
• PMID 23816241

Japanese Journal

• 症例 14トリソミーが見出されたLiner and Whorled Nevoid Hypermelanosisの1例

• 中川 恵子,芳賀 恒夫,布施 恵理 [他]
• 皮膚科の臨床 54(7), 999-1002, 2012-07
• NAID 40019379631

• Long survival case of trisomy 13 mosaicism in a 7-year-old male

• Imataka George,Tsuboi Tatsuo,Tsukada Keiko,Watabe Yoshiyuki,Hagisawa Susumu,Ohwada Yoko,Arisaka Osamu
• Dokkyo journal of medical sciences 39(1), 81-84, 2012-03-25
• … Trisomy 13 is a complication of various congenital abnormalities of the heart, brain, etc. … We herein report on the case of a 7-year 1-month-old boywith mosaicism trisomy 13 with the two considerations mentioned below as the cause for long-term survivalin this case. …
• NAID 110009040105

• Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues

• MAZZA Vincenzo,LATELLA Silvia,FENU Valentina,FERRARI Paola,BONILAURI Carlotta,SANTUCCI Sandra,PERCESEPE Antonio
• The journal of obstetrics and gynaecology research 36(5), 1116-1120, 2010-10-01
• NAID 10031121755

Related Links

• Trisomy 8 Mosaicism Syndrome | Definition and Patient ...

Trisomy 8 mosaicism syndrome (T8mS) is a condition that affects human chromosomes. People with T8mS have three complete copies of chromosome 8 in their cells. ... If most or all cells have the extra chromosome, this is a ...

• Trisomy 8 Mosaicism - Unique The Rare Chromosome ...

2 Trisomy 8 Mosaicism Trisomy 8 mosaicism (T8M) is a chromosome disorder caused by the presence of a complete extra chromosome 8 in some cells of the body. The remaining cells have the usual number of 46 chromosomes ...

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trisomy 8 mosaicism

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8番染色体