Trisomy
Research News and Information

Monday, November 23, 2009

The phenotypic spectrum of trisomy 2: report of two new cases.

29 Sep 2009 We describe two cases of trisomy 2. The first case is a child with mosaic trisomy 2 who presented with mental retardation, multiple congenital anomalies, and dysmorphic findings similar to Pallister-Killian syndrome. The second case was an acardiac ... Read more...

Marathon of eponyms: 4 Down syndrome.

30 Aug 2009 The use of eponyms has long been contentious, but many remain in common use, as discussed elsewhere (Editorial: Oral Diseases. 2009: 15; 185). The use of eponyms in Diseases of the head and neck is mainly in specialties dealing with medically ... Read more...

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...

Latest indexed articles for 'Trisomy'

These are the very latest articles for this heading:

• The phenotypic spectrum of trisomy 2: report of two new cases. 29 Sep 2009
• Trisomy 8 in PDGFRB-negative cells in a patient with imatinib-sensitive chronic myelomonocytic leukemia and t(5;16)(q33;p13), PDGFRB-NDE1 fusion. 29 Sep 2009
• Marathon of eponyms: 4 Down syndrome. 30 Aug 2009
• Down syndrome: the crucible for treating genomic imbalance. 30 Aug 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
• Misgivings. 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
• Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation. 29 Aug 2009
• Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion. 29 Aug 2009
• Karyotype-specific microRNA signature in chronic lymphocytic leukemia. 26 Aug 2009
• Prevalence and likelihood ratios for aneuploidy in fetuses diagnosed prenatally with isolated congenital cardiac defects. 26 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
• Changing clinical presentations and survival pattern in trisomy 18. 30 Jul 2009
• Changing demography and variable expressivity in autosomal trisomy syndromes. 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

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