Trisomy - Physiopathology
Research News and Information

Sunday, November 22, 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 Down syndrome (DS) can be modeled in mice segmentally trisomic for mouse chromosome 16. Ts65Dn and Ts1Cje mouse models have been used to study DS neurobiological phenotypes including changes in cognitive ability, induction of long-term potentiation ... Read more...

[Prenatal genetic study of fetuses with congenital heart diseases]

30 Mar 2009 OBJECTIVE: To investigate the genetic abnormalities of fetuses with congenital heart diseases (CHD), and to provide guidance for the management of pregnancy and genetic counseling. METHODS: Eighty-one fetuses with CHD detected by fetal ... Read more...

Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21.

24 Jan 2009 This case study describes the neurocognitive presentation of a child with identified genetic abnormalities of trisomy 6 and monosomy 21 who was evaluated as part of a standard medical protocol for cochlear implantation following diagnosis of ... Read more...

Latest indexed articles for 'Trisomy - Physiopathology'

These are the very latest articles for this heading:

• 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
• [Prenatal genetic study of fetuses with congenital heart diseases] 30 Mar 2009
• Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21. 24 Jan 2009
• Partial trisomy of 7q: case report and literature review. Dec 2007
• Increased levels of carbonic anhydrase II in the developing Down syndrome brain. 20 Nov 2007
• Mitochondrial dysfunction in mouse trisomy 16 brain. 24 Oct 2007
• Synaptic and cognitive abnormalities in mouse models of Down syndrome: exploring genotype-phenotype relationships. 29 Sep 2007
• Transformation of cytogenetically normal chronic myelomonocytic leukaemia to an acute myeloid leukaemia and the emergence of a novel +13, +15 double trisomy resulting in an adverse outcome. 30 Aug 2007
• Placental vascularization measured by three-dimensional power Doppler ultrasound at 11 to 13 + 6 weeks' gestation in normal and aneuploid fetuses. 30 Aug 2007
• Endosomal abnormalities related to amyloid precursor protein in cholesterol treated cerebral cortex neuronal cells derived from trisomy 16 mice, an animal model of Down syndrome. Aug 2007
• Scotosensitive and photosensitive myoclonic seizures in an infant with trisomy 13. 26 Jul 2007
• Maternal origin and clinical findings in a case with trisomy 22. 29 Jun 2007
• Survival of trisomy 18 cases in Japan. 30 Dec 2006
• Association of paternal age with prevalence of selected birth defects. 30 Dec 2006
• Altered calcium currents in cultured sensory neurons of normal and trisomy 16 mouse fetuses, an animal model for human trisomy 21 (Down syndrome). 5 Nov 2006
• Knockdown of amyloid precursor protein normalizes cholinergic function in a cell line derived from the cerebral cortex of a trisomy 16 mouse: An animal model of down syndrome. 30 Oct 2006
• In vivo restoration of physiological levels of truncated TrkB.T1 receptor rescues neuronal cell death in a trisomic mouse model. 4 Jul 2006
• [Fourteen-year survival in a patient with Edwards syndrome] 30 Oct 2005
• Abnormal synaptic plasticity in the Ts1Cje segmental trisomy 16 mouse model of Down syndrome. 29 Jun 2005
• Immunophenotypic and genetic characterization of a CD8 positive mantle cell lymphoma in a patient with concomitant Mycosis fungoides. 29 Jun 2005

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