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

Further data suggesting that assessment of atypicality may be a valuable addition to Down's syndrome screening is presented, based on results from 1521 unaffected pregnancies and 190 chromosomally abnormal pregnancies. For a 1 % increase in false positive rates (over the Down's screening-related false positives), it is estimated that the detection of non-trisomy 21 abnormalities may be enhanced by approximately 40%. These false positive and detection rates are similar to previous reports for specific trisomy 18 screens. Further work is necessary to prove whether a specific trisomy 18 screen, or an atypicality screen is preferable.

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Trisomy 21-trisomy 18 mosaicism in a boy with clinical Down's syndrome

The Journal of Pediatrics ◽

10.1016/s0022-3476(67)80243-9 ◽

1967 ◽

Vol 71 (1) ◽

pp. 126-128 ◽

Cited By ~ 9

Author(s):

James F. Marks ◽

Kenneth M. Wiggins ◽

Billie J. Spector

Keyword(s):

Trisomy 21 ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Trisomy 18

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

Annals of Human Genetics ◽

10.1111/j.1469-1809.1995.tb00746.x ◽

1995 ◽

Vol 59 (3) ◽

pp. 253-269 ◽

Cited By ~ 31

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

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Anorexia nervosa, major depression, and obsessive-compulsive disorder in a Down's syndrome patient

International Journal of Eating Disorders ◽

10.1002/(sici)1098-108x(199801)23:1<107::aid-eat15>3.0.co;2-z ◽

1998 ◽

Vol 23 (1) ◽

pp. 107-109 ◽

Cited By ~ 9

Author(s):

Seija Raitasuo ◽

Hilkka Virtanen ◽

Jouni Raitasuo

Keyword(s):

Anorexia Nervosa ◽

Major Depression ◽

Obsessive Compulsive Disorder ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Syndrome Patient ◽

Obsessive Compulsive ◽

Compulsive Disorder

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Trisomy 21 in One of Twin Fetuses

PEDIATRICS ◽

10.1542/peds.62.1.52 ◽

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.

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Cast aside

10.1093/med/9780198854807.003.0027 ◽

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.

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