نتایج جستجو برای: trisomy of 21

تعداد نتایج: 21198882  

Journal: :Fetal diagnosis and therapy 2009
Ismini Staboulidou Alberto Galindo Nerea Maiz George Karagiannis Kypros H Nicolaides

OBJECTIVE We examined the potential value of the uterine artery pulsatility index (PI) in pregnancies with fetal aneuploidies and in those that developed preeclampsia (PE) with the aim of distinguishing between these complications in pregnancies with low pregnancy-associated plasma protein-A (PAPP-A). METHODS Uterine artery PI and serum PAPP-A at 11-13 weeks were measured in 165 cases of PE, ...

Journal: :The Journal of bone and joint surgery. British volume 1982
G C Bennet M Rang D P Roye H Aprin

Almost one child in twenty with trisomy 21 will develop spontaneous dislocation of the hip between learning to walk and the age of 10 years. After the age of two years spontaneous habitual dislocation may occur. If left untreated, acute dislocation, subluxation and fixed dislocation follow in sequence. The natural history of the condition is described and the clinical and radiological features ...

Journal: :Blood Cells, Molecules, and Diseases 2013

Journal: :Blood cells, molecules & diseases 2007
Shai Izraeli Liat Rainis Libi Hertzberg Gil Smooha Yehudit Birger

Extra copies of chromosome 21 are often found in sporadic leukemias. Constitutional trisomy 21 of Down syndrome (DS) is associated with markedly increased risk for childhood leukemia. Thus the oncogenic role of trisomy 21 in the more common sporadic childhood leukemias may be revealed through the investigations of the relatively rare leukemias of DS. Recent studies of the megakaryoblastic leuke...

Journal: :American journal of human genetics 1991
S L Sherman N Takaesu S B Freeman M Grantham C Phillips R D Blackston P A Jacobs A E Cockwell V Freeman I Uchida

To assess the association between recombination and nondisjunction of chromosome 21, we analyzed cytogenetic and DNA markers in 104 trisomy 21 individuals and their parents. Our DNA marker studies of parental origin were informative in 100 cases, with the overwhelming majority (94) being maternal in origin. This value is significantly higher than the 75%-80% maternal nondisjunction rate typical...

Journal: :Arquivos de neuro-psiquiatria 1963
W BECAK J D ANDRADE M L BECAK A MANISSADJIAN

The presence of 47 chromosomes in mongoloids, due to the trisomy of a small acrocentric chromosome in the 21-22 group (Denver system) was demonstrated by Lejeune et al. 1 1 in 1959, and since that time has been confirmed by numerous authors (Beçak 2 ) . The production of this trisomy is explained by a defect in the process by which the homologous chromosomes or sister chromatids should dislocat...

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