Discriminant diagnosis of 21-trisomy mosaicism. 1976

D Loesch, and C A Smith

UI MeSH Term Description Entries
D008297 Male Males
D008403 Mass Screening Organized periodic procedures performed on large groups of people for the purpose of detecting disease. Screening,Mass Screenings,Screening, Mass,Screenings,Screenings, Mass
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D011336 Probability The study of chance processes or the relative frequency characterizing a chance process. Probabilities
D002904 Chromosomes, Human, 21-22 and Y The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome. Chromosomes G,Group G Chromosomes,Chromosomes, Human, 21 22,Chromosomes, Human, 21-22,Chromosome, Group G,Chromosomes, Group G,Group G Chromosome
D003878 Dermatoglyphics The study of the patterns of ridges of the skin of the fingers, palms, toes, and soles. Fingerprints,Plantar Prints,Fingerprint,Plantar Print,Print, Plantar,Prints, Plantar
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
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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