Biomaterial Database

Aspects of human disease. 39. Down syndrome (mongolism or trisomy 21). 2009

Crispian Scully

Eastman Dental Institute, University College London, 256 Gray's Inn Road, London WC1X 8LD, UK.

UI	MeSH Term	Description	Entries
D004314	Down Syndrome	A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)	Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

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[Mongolism (Down's syndrome or trisomy 21)].

January 1981, Stomatologia,

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[Periodontology (1). Langdon Down syndrome: mongolism--trisomy 21].

January 1987, Schweizer Monatsschrift fur Zahnmedizin = Revue mensuelle suisse d'odonto-stomatologie = Rivista mensile svizzera di odontologia e stomatologia,

Crispian Scully

Down's Syndrome (Mongolism, Trisomy 21).

May 1972, The American journal of pathology,

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[Down's syndrome. Mongolism, trisomy 21].

April 1971, Ugeskrift for laeger,

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[Oral manifestations of trisomy 21 syndrome (Down's syndrome--mongolism)].

January 1986, Archivio stomatologico,

Crispian Scully

Trisomy 21 (Down Syndrome).

January 1990, American journal of medical genetics. Supplement,