trisomy 16p

16p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. ダウン症および18トリソミーに対するスクリーニングのための、妊娠初期における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. 母体血中の無細胞核酸を使った非侵襲的出生前検査 noninvasive prenatal testing using cell free nucleic acids in maternal blood
• 5. 慢性リンパ性白血病の病態生理および遺伝学的特徴 pathophysiology and genetic features of chronic lymphocytic leukemia

English Journal

• Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities.

• Cox DM1, Butler MG.
• Cytogenetic and genome research.Cytogenet Genome Res.2015;145(1):29-34. doi: 10.1159/000381293. Epub 2015 Apr 8.
• We report a 36-year-old Caucasian male identified with distal partial trisomy 15q and partial monosomy 16p from an unbalanced chromosome translocation detected by microarray and FISH analysis. He had a history of developmental delay and intellectual disability, chronic anemia, tall and slender statu
• PMID 25871641

• Metachronous neuroblastoma in an infant with germline translocation resulting in partial trisomy 2p: a role for ALK?

• Morgenstern DA1, Soh SY, Stavropoulos DJ, Bowdin S, Baruchel S, Malkin D, Meyn MS, Irwin MS.
• Journal of pediatric hematology/oncology.J Pediatr Hematol Oncol.2014 Apr;36(3):e193-6. doi: 10.1097/MPH.0b013e3182a8f25d.
• A male infant with dysmorphic features, intestinal malrotation, and developmental delay was found to have a germline translocation resulting in partial trisomy 2p and monosomy 16p. At 3 and 9 months of age, he developed localized neuroblastoma in each adrenal, which was managed with surgical resecti
• PMID 24276038

• The genetics of interdigitating dendritic cell sarcoma share some changes with Langerhans cell histiocytosis in select cases.

• O'Malley DP1, Zuckerberg L, Smith LB, Barry TS, Gunn S, Tam W, Orazi A, Kim YS, Weiss LM.
• Annals of diagnostic pathology.Ann Diagn Pathol.2014 Feb;18(1):18-20. doi: 10.1016/j.anndiagpath.2013.10.003. Epub 2013 Oct 29.
• Histiocytic disorders have been noted to have evidence of transdifferentiation; examples of cases with combinations of different lineages have been shown. In our index case, we identified interdigitating dendritic cell (IDC) differentiation in a case of Langerhans cell histiocytosis (LCH). Little is
• PMID 24321462

Japanese Journal

• Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter

• YAMADA Keitaro,UCHIYAMA Atsushi,ARAI Mayuki,KUBODERA Kuniko,YAMAMOTO Yutaka,ORII Koji O.,NAGASAWA Hiroyuki,MASUNO Mitsuo,KOHNO Yoshinori
• Congenital anomalies 49(2), 85-88, 2009-06-01
• NAID 10027388162

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★リンクテーブル★

リンク元	「16pトリソミー」

「16pトリソミー」

　　[★]

英

trisomy 16p

関

16番染色体