Biomaterial Database

Non-disjunction in trisomy 21: study of chromosomal heteromorphisms in 110 families. 1980

M Mikkelsen, and H Poulsen, and J Grinsted, and A Lange

QM variants on chromosome 21 and silver staining of NOR regions were applied in the study of non-disjunction in 110 families from different parts of Denmark. In 76% of the families the study was informative. Paternal failures were observed in 11% on Funen as compared 23.5% on Zealand. In one family, crossing-over on the short arms of chromosome 21 in the mother and mitotic non-disjunction of chromosome 21 was observed. Maternal first meiotic error predominates in both high maternal and low maternal age. Also in paternal non-disjunction failures of first meiotic division predominate. Two maternally and one paternally originated cases of de novo translocations were observed.

UI	MeSH Term	Description	Entries
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297	Male		Males
D008423	Maternal Age	The age of the mother in PREGNANCY.	Age, Maternal,Ages, Maternal,Maternal Ages
D009630	Nondisjunction, Genetic	The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.	Genetic Non-Disjunction,Genetic Nondisjunction,Non-Disjunction, Genetic,Genetic Non Disjunction,Genetic Non-Disjunctions,Genetic Nondisjunctions,Non Disjunction, Genetic,Non-Disjunctions, Genetic,Nondisjunctions, Genetic
D010331	Paternal Age	Age of the biological father.	Age, Paternal,Ages, Paternal,Paternal Ages
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
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
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