trisomy 3q

3q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. ナチュラルキラー（NK）細胞大顆粒リンパ球性白血病natural killer nk cell large granular lymphocyte leukemia [show details]
  …clonal cytogenetic abnormalities, including duplication of 1q, rearrangement at 3q, loss of chromosomes Y, 13, or 10, and trisomy 8 . Aggressive NK cell leukemia is suspected in a patient with aggressive clinical…
• 2. びまん性大細胞型B細胞性リンパ腫および原発性縦隔大細胞型B細胞リンパ腫の病理学pathobiology of diffuse large b cell lymphoma and primary mediastinal large b cell lymphoma [show details]
  …immunoglobulin gene demonstrates intraclonal homogeneity . ABC is associated with loss of 6q21, trisomy 3, and gains of 3q and 18q21-22 . The commonly deleted locus on 6q includes the gene for the tumor suppressor…
• 3. 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 testfirst trimester combined test and integrated tests for screening for down syndrome and trisomy 18 [show details]
  …detected 10 of 11 fetuses with trisomy 18 . The single false negative case was screen-positive for trisomy 21. Thus, screening identified 91 percent of the 11 cases of trisomy 18, with a false-positive rate …
• 4. 先天性の細胞遺伝学的異常congenital cytogenetic abnormalities [show details]
  … rate in trisomy pregnancies with advancing maternal age . Trisomy 21 (Down syndrome) remains the most common chromosomal abnormality among liveborn infants . However, the exact number of trisomy 21 live …
• 5. 胎児異数性に関連する超音波所見sonographic findings associated with fetal aneuploidy [show details]
  …Afro-Caribbean origin (LR for trisomy 21: 31 versus 9), at 13 versus 11 weeks of gestation (LR for trisomy 21: 52 versus 18), and at NT 3.5-4.4 mm versus NT ≥5.5 mm (LR for trisomy 21: 13 versus 5) . An absent …

English Journal

• A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion.

• Rodríguez L1, Bhatt SS2, García-Castro M1, Plasencia A3, Fernández-Toral J3, Abarca E1, de Bello Cioffi M4, Liehr T5.
• Gene.Gene.2014 Feb 10;535(2):165-9. doi: 10.1016/j.gene.2013.11.041. Epub 2013 Dec 6.
• Until now, few cases of partial trisomy of 3q due to segregation error of parental balanced translocation and segregation of a duplicated deficient product resulting from parental pericentric inversion have been reported so far. Only five cases of chromosomal insertion malsegregation involving 3q re
• PMID 24316129

• 3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization.

• Chen CP1, Lin CJ, Chen YY, Wang LK, Chern SR, Wu PS, Su JW, Chen LF, Town DD, Pan CW, Wang W.
• Gene.Gene.2013 Dec 10;532(1):80-6. doi: 10.1016/j.gene.2013.09.025. Epub 2013 Sep 18.
• We present prenatal diagnosis and array comparative genomic hybridization characterization of 3q26.31-q29 duplication and 9q34.3 microdeletion in a fetus with omphalocele, ventricular septal defect, increased nuchal translucency, abnormal first-trimester maternal screening and facial dysmorphism wit
• PMID 24055486

• Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints.

• Chen CP1, Chang YL, Chern SR, Wu PS, Su JW, Chen WL, Chen LF, Wang W.
• Gene.Gene.2013 Mar 1;516(1):132-7. doi: 10.1016/j.gene.2012.12.052. Epub 2012 Dec 22.
• We present rapid aneuploidy diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin by aCGH using uncultured amniocytes in a fetus with hypotonia, scoliosis, arthrogryposis, hyperextensible joints, facial dysmorphism, ventricular septal defect, pu
• PMID 23266805

Japanese Journal

• Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome

• British journal of haematology 140(5), 552-561, 2008-03
• NAID 120001086988

• 出生前診断された1q部分モノソミー3q部分トリソミーの1例

• 日本産科婦人科學會雜誌 54(5), 809-813, 2002
• NAID 110002189016

• Partital trisomy 3q casusing mild Cornelia de Lange phenotype

• J Med Genet 31, 150-152, 1994
• NAID 30041977370