Výsledky vyhledávání

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance

Autor: Christine A Joyce, Morag N. Collinson, N R Dennis, H. M. Dyson, M. S. Bateman, Lionel Willatt, Andrew Green, John C K Barber, John R.W. Yates, J.C. Nicholson

Publikováno v: Journal of Medical Genetics. 35:491-496

We present seven families with a cytogenetic duplication of the short arm of chromosome 8 at band 8p23.1. The duplication has been transmitted from parents to offspring in four of the seven families. In three families, the source of the extra materia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::494e82d3322261d25710e1df5f36a4bc
https://doi.org/10.1136/jmg.35.6.491

Zobrazit plný text záznamu

A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line

Autor: J Alexander, H M Dyson, D Goudie, P E Jenks, B C Davison, L R Willatt, M E Ferguson-Smith

Publikováno v: Journal of Medical Genetics. 29:742-744

We describe a 17 year old male with a low level of trisomy 9 mosaicism. Maternal uniparental chromosome 9 disomy in the euploid cell line was shown to have arisen after postzygotic loss of the paternal chromosome 9 from the trisomic cell line by cyto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d15d8070e847437370af4384b30d0375
https://doi.org/10.1136/jmg.29.10.742

Zobrazit plný text záznamu

Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics

Autor: A H Pelmear, Malcolm A. Ferguson-Smith, S L Wood, K Cook, M A Leversha, H Telenius, Nigel P. Carter, H M Dyson, M T Glancy, M T Perryman

Publikováno v: Journal of medical genetics. 29(5)

We describe a method, termed reverse chromosome painting, which allows the rapid analysis of the content and breakpoints of aberrant chromosomes. The method involves the sorting of small numbers of the aberrant chromosome from short term blood cultur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac467443fd6e58001c44cca113e339ad
https://pubmed.ncbi.nlm.nih.gov/1583656

Zobrazit plný text záznamu

Flecked retina associated with ring 17 chromosome

Autor: H. M. Dyson, L. Willatt, Stephen J. Charles, B. C. C. Davison, Anthony T. Moore

We report the case of a mentally retarded male with a ring 17 chromosome who had subretinal drusen-like deposits in each eye. This is the second report of flecked retina in a patient with ring 17 chromosome, suggesting that there may be a causal rela

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52b3fe976ae242a62be9a863782b5ee8
https://europepmc.org/articles/PMC504131/

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání