Biomaterial Database

[Partial trisomy 13 (13q14 leads to 13qter) in mosaic (author's transl)]. 1978

J C Lambert, and A Galiana, and M Donzeau, and M Ferrari, and N Ayraud

A case of partial trisomy 13 with mosaicism in a 6 1/2 year-old boy is reported. Concerning this case and according to previous data in the literature, the authors try to give a precise topology for trisomy 13; it is possible to outline phenotypes specific for a trisomy of both the proximal third and the distal two thirds of the chromosome, but it appears difficult to suggest a more precise picture for the topology of trisomy 13. This difficulty is related to the notion of phenotypic variability encountered in complete trisomy 13.

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
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
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002901	Chromosomes, Human, 13-15	The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.	Chromosomes D,Group D Chromosomes,Chromosome, Group D,Chromosomes, Group D,Group D 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
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities
D014314	Trisomy	The possession of a third chromosome of any one type in an otherwise diploid cell.	Partial Trisomy,Chromosomal Triplication,Chromosomal Triplications,Partial Trisomies,Trisomies,Trisomies, Partial,Trisomy, Partial