Trisomy - Genetics
Research News and Information

Monday, November 23, 2009

The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome.

30 Aug 2009 Trisomy 21 or Down syndrome is a chromosomal disorder resulting from the presence of all or part of an extra Chromosome 21. It is a common birth defect, the most frequent and most recognizable form of mental retardation, appearing in about 1 of ... Read more...

Homozygous alpha-thalassemia with trisomy 7 mosaicism in a live-born infant.

30 Aug 2009 The authors report a male infant born at 35 weeks gestational age with an atypical presentation of homozygous alpha-thalassemia. The live-born infant displayed abnormalities of the upper limbs and genitalia, which are vascular-type disruptive ... Read more...

Segmental tandem triplication of the MLL gene in an intravascular large B-cell lymphoma with multisystem involvement: a comprehensive morphologic, immunophenotypic, cytogenetic, and molecular cytogenetic antemortem study.

30 Aug 2009 An association between intravascular large B-cell lymphoma (IVLBCL) and the mixed lineage leukemia (MLL) gene has never been demonstrated. Here, we report an IVLBCL in a 47-year-old Asian man. Morphologically, the atypical lymphoid infiltrate was ... Read more...

Latest indexed articles for 'Trisomy - Genetics'

These are the very latest articles for this heading:

• The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome. 30 Aug 2009
• Homozygous alpha-thalassemia with trisomy 7 mosaicism in a live-born infant. 30 Aug 2009
• A 12-hour-old girl with multiple congenital anomalies. 30 Aug 2009
• Segmental tandem triplication of the MLL gene in an intravascular large B-cell lymphoma with multisystem involvement: a comprehensive morphologic, immunophenotypic, cytogenetic, and molecular cytogenetic antemortem study. 30 Aug 2009
• Clonal switch of leukemic myeloblasts after chemotherapy in a patient with chronic myeloproliferative disorder. 18 Aug 2009
• Caudally threaded thoracic epidural catheter as the sole anesthetic in a premature infant and ultrasound confirmation of the catheter tip. 30 Jul 2009
• Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review. 30 Jul 2009
• Prenatal diagnosis of mosaic complete trisomy 1q. 30 Jul 2009
• Mosaic trisomy 1q: The longest surviving case. 30 Jul 2009
• Increased lipid peroxidation in Down's syndrome mouse models. 21 Jul 2009
• Trisomy 8 in two newly diagnosed Chinese patients with chronic lymphocytic leukemia. 13 Jul 2009
• The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. 11 Jul 2009
• Case study: trisomy 13, a palliative care case. 29 Jun 2009
• Distal trisomy of 10q with distal monosomy of 15q due to a paternal translocation. 29 Jun 2009
• [Language development impairment and trisomy 8 mosaicism] 29 Jun 2009
• Performance of first-trimester combined screening for trisomy 13 and 18 with the double test taken at a gestational age of 8 + 0 to 13 + 6. 30 May 2009
• A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18. 30 May 2009
• Derivative (1)t(1;19)(p13;p13) in the setting of myelofibrosis with JAK2 V617F. 30 May 2009
• The "Down syndrome critical region" is sufficient in the mouse model to confer behavioral, neurophysiological, and synaptic phenotypes characteristic of Down syndrome. 4 May 2009
• Familial 4;18 chromosome translocation resulting in trisomy 4p and monosomy 18p: affected individuals with discordant phenotype. 29 Apr 2009

See a longer list of these articles.

Technical information about 'Trisomy'

Definition: The possession of a third chromosome of any one type in an otherwise diploid cell.

Descriptor UI: D014314

Alternative terms: Trisomy; Trisomies;

Allowable Qualifiers: diagnosis; genetics; immunology; pathology; physiopathology;

Tree Number: C23.550.210.050.750; G05.365.590.175.050.750; G05.700.131.750;

History Note: 64(63)

Technical Notes: coord IM with specific chromosome number (IM); trisomy 21 = DOWN SYNDROME