Characterization of platelet alkaline phosphatase in normal subjects and in trisomy 21 Down's syndrome patients

1971 ◽  
Vol 35 (1) ◽  
pp. 165-172 ◽  
Author(s):  
W. Tangheroni ◽  
A. Cao ◽  
S. Lungarotti ◽  
G. Coppa ◽  
S. De Virgiliis ◽  
...  
2021 ◽  
Vol 754 ◽  
pp. 135894
Author(s):  
Eleni Gkanatsiou ◽  
Charlotte Sahlin ◽  
Erik Portelius ◽  
Malin Johannesson ◽  
Linda Söderberg ◽  
...  

2020 ◽  
Vol 16 (S2) ◽  
Author(s):  
Eleni Gkanatsiou ◽  
Charlotte Sahlin ◽  
Erik Portelius ◽  
Malin Johannesson ◽  
Linda Söderberg ◽  
...  

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

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