scholarly journals Down's syndrome fibroblasts exhibit enhanced inositol uptake

1990 ◽  
Vol 270 (1) ◽  
pp. 119-123 ◽  
Author(s):  
B R Fruen ◽  
B R Lester
Keyword(s):  
Plasma Membrane ◽  
Kinetic Analysis ◽  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Maximal Velocity ◽  
High Affinity ◽  
Proportional Increase ◽  
Inositol Uptake ◽  
Inositol Metabolism

The inositol metabolism of Down's syndrome (DS, trisomy 21) skin fibroblasts was examined. We report that DS cells accumulated [3H]inositol 2-3-fold faster than did other aneuploid or diploid controls. In contrast, trisomy 21 did not affect the uptake of choline, serine or glucose. Kinetic analysis demonstrated an increased maximal velocity of high-affinity, Na(+)-dependent, inositol transport, consistent with the expression of higher numbers of transporters by DS cells. Enhanced uptake was accompanied by a proportional increase in the incorporation of radiolabelled inositol into phospholipid. We suggest that an imbalance of inositol metabolism may contribute to plasma membrane abnormalities characteristic of DS cells.

Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome)

1995 ◽  
Vol 59 (3) ◽  
pp. 253-269 ◽  
Author(s):  
G. E. DAVIES ◽  
C. M. HOWARD ◽  
M. J. FARRER ◽  
M. M. COLEMAN ◽  
L. B. BENNETT ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Congenital Heart Defects ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome

Trisomy 21 in One of Twin Fetuses

PEDIATRICS ◽  
1978 ◽  
Vol 62 (1) ◽  
pp. 52-53
Author(s):  
Richard H. Heller ◽  
Lee S. Palmer
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Healthy Infant ◽  
The Other ◽  
Technical Problems ◽  
The Family ◽  
Successful Execution

Both the detection of twins and the successful execution of a double amniocentesis pose significant technical problems in prenatal diagnosis. A case is reported in which one of twin fetuses had trisomy 21 and the other was chromosomally normal. Following counseling, the family chose to continue the pregnancy. At term, the mother was delivered of a healthy infant and a severely macerated fetus with stigmata suggestive of Down's syndrome.

Cast aside

2021 ◽  
pp. 191-196
Author(s):  
Michael Obladen
Keyword(s):  
Trisomy 21 ◽  
Homo Sapiens ◽  
Down's Syndrome ◽  
Scientific Progress ◽  
Down’S Syndrome ◽  
Chromosomal Anomalies ◽  
Additional Chromosome ◽  
Ethnic Classification ◽  
The Right ◽  
Invasive Techniques

Trisomy 21 originated with Homo sapiens, or even before, as it exists in other primates. However, in antiquity, Down’s syndrome was rare: mothers were younger, and children failed to reach adulthood. For centuries, trisomy 21 and hypothyreosis were confused. Scientific reports originated from asylums for the mentally retarded. In 1866, John Langdon Down at Earlswood published a description of symptoms in his ‘Ethnic classification of idiots’ and coined the term ‘Mongolian’. Jerôme Lejeune identified an additional chromosome 21 causing the disorder. Maternal age rose markedly for various reasons, as did the prevalence of trisomy 21. From 1968, high-risk pregnancies were screened and interrupted because of Down’s syndrome. Non-invasive techniques now enable all pregnancies to be screened to detect chromosomal anomalies early and precisely. The topic is hotly debated and consensus unlikely. Legislation will not halt scientific progress, but it should ensure that in the same society contradictory attitudes can be held and mutually respected: the right to accept a disabled infant and the right not to accept it.

scholarly journals Coincidence of myotonic dystrophy and Down's syndrome (trisomy 21)

1987 ◽  
Vol 50 (1) ◽  
pp. 110-111 ◽  
Author(s):  
J R Ara ◽  
M Tamparillas ◽  
M Montori ◽  
J L Capablo ◽  
A Oliveros
Keyword(s):  
Myotonic Dystrophy ◽  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome

TRISOMY 21 OR 22 IN DOWN'S SYNDROME ?

The Lancet ◽  
1967 ◽  
Vol 289 (7504) ◽  
pp. 1389 ◽  
Author(s):  
M. Fraccaro ◽  
J. Lindsten ◽  
L. Tiepolo
Keyword(s):  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome

scholarly journals Trisomy 18 and trisomy 21 mosaicism in a Down's syndrome patient.

1994 ◽  
Vol 31 (5) ◽  
pp. 418-419 ◽  
Author(s):  
I M Thomas ◽  
R Sayee ◽  
L Shavanthi ◽  
H Sridevi
Keyword(s):  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Trisomy 18 ◽  
Syndrome Patient

Abnormal leukocyte kinetics: An explanation for the enzyme abnormalities observed in trisomy-21 (Down's syndrome)

1966 ◽  
Vol 69 (5) ◽  
pp. 952-953 ◽  
Author(s):  
Spencer O. Raab ◽  
W.J. Mellman ◽  
F.A. Oski ◽  
D. Baker
Keyword(s):  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome

Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism

1994 ◽  
Vol 255 (4) ◽  
pp. 213-216 ◽  
Author(s):  
L. -H. Tseng ◽  
S. -M. Chuang ◽  
T. -Y. Lee ◽  
Tsang-Ming Ko
Keyword(s):  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome
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