Biomaterial Database

[A jumping translocation (5p;15q), (8q;15q), and (12q;15q) (author's transl)]. 1979

J Lejeune, and C Maunoury, and M Prieur, and J Van den Akker

Three balanced karyotypes (5p;15q), (8q;15q), and (12q;15q) were found simultaneously in a child with the Willi-Prader syndrome. The hypothesis is presented of a "jumping# translocation by affinity of telomeric and interstitial palindromes. The relationship between the Willi-Prader syndrome and a juxtacentric anomaly of the long arm of chromosome 15 is discussed.

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.
D011218	Prader-Willi Syndrome	An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)	Labhart-Willi Syndrome,Royer Syndrome,Labhart-Willi-Prader-Fanconi Syndrome,Prader Labhart Willi Syndrome,Prader-Labhart-Willi Syndrome,Royer's Syndrome,Willi-Prader Syndrome,Labhart Willi Prader Fanconi Syndrome,Labhart Willi Syndrome,Prader Willi Syndrome,Royers Syndrome,Syndrome, Labhart-Willi,Syndrome, Labhart-Willi-Prader-Fanconi,Syndrome, Prader-Labhart-Willi,Syndrome, Prader-Willi,Syndrome, Royer,Syndrome, Royer's,Syndrome, Willi-Prader,Willi Prader Syndrome
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D002871	Chromosome Banding	Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.	Banding, Chromosome,Bandings, Chromosome,Chromosome Bandings
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
D002905	Chromosomes, Human, 4-5	The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.	Chromosomes B,Group B Chromosomes,Chromosome, Group B,Chromosomes, Group B,Group B Chromosome
D002906	Chromosomes, Human, 6-12 and X	The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.	Chromosomes C,Group C Chromosomes,Chromosomes, Human, 6-12,Chromosome, Group C,Chromosomes, Group C,Group C Chromosome
D002999	Clone Cells	A group of genetically identical cells all descended from a single common ancestral cell by mitosis in eukaryotes or by binary fission in prokaryotes. Clone cells also include populations of recombinant DNA molecules all carrying the same inserted sequence. (From King & Stansfield, Dictionary of Genetics, 4th ed)	Clones,Cell, Clone,Cells, Clone,Clone,Clone Cell