Changes of elements in blood cells and enzyme activity in erythrocytes in down's syndrome (trisomy 21)

1998 ◽  
Vol 5 ◽  
pp. 80
Author(s):  
Erland Johansson ◽  
Tuomas Westermarck ◽  
Erkki Antila ◽  
Ulf Lindh ◽  
Päivi Nikkinen
Blood ◽  
1967 ◽  
Vol 30 (5) ◽  
pp. 669-673 ◽  
Author(s):  
HENRY L. NADLER ◽  
PATRICIA L. MONTELEONE ◽  
TOHRU INOUYE ◽  
DAVID YI-YUNG HSIA

Abstract Patients with trisomic Down’s syndrome were found to have significant increases of acid phosphatase, alkaline phosphatase, and glucose-6-phosphate dehydrogenase in both lymphocytes and polymorphonuclear leukocytes separated from white blood cells by the procedure of Rabinowitz. The alteration in enzyme activities appears not to be directly related to genes located on the chromosome causing 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 ◽  
...  

PEDIATRICS ◽  
1978 ◽  
Vol 62 (1) ◽  
pp. 52-53
Author(s):  
Richard H. Heller ◽  
Lee S. Palmer

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.


2021 ◽  
pp. 191-196
Author(s):  
Michael Obladen

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.


1987 ◽  
Vol 50 (1) ◽  
pp. 110-111 ◽  
Author(s):  
J R Ara ◽  
M Tamparillas ◽  
M Montori ◽  
J L Capablo ◽  
A Oliveros

The Lancet ◽  
1967 ◽  
Vol 289 (7504) ◽  
pp. 1389 ◽  
Author(s):  
M. Fraccaro ◽  
J. Lindsten ◽  
L. Tiepolo

1994 ◽  
Vol 31 (5) ◽  
pp. 418-419 ◽  
Author(s):  
I M Thomas ◽  
R Sayee ◽  
L Shavanthi ◽  
H Sridevi

1966 ◽  
Vol 69 (5) ◽  
pp. 952-953 ◽  
Author(s):  
Spencer O. Raab ◽  
W.J. Mellman ◽  
F.A. Oski ◽  
D. Baker

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