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Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation

Autor: Frizzley, J., Stephan, M., Lamb, A., Jonas, P., Hinson, R., Moffitt, D., Shkolny, D., McDermid, H.

A patient with several features consistent with duplication of 22q11.2 (cat eye syndrome or CES) was found to be mosaic for a dicentric double ring chromosome 22 on postnatal karyotyping of peripheral blood. The initial karyotype was 46,XX,r(22)(p12q

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::160b619e6698a7f5ca9a5ac5ee0b7d7b
https://europepmc.org/articles/PMC1734329/

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Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation

Autor: Wong, A, Ning, Y, Flint, J, Clark, K, Dumanski, J, Ledbetter, D, McDermid, H

Publikováno v: American journal of human genetics. 60(1)

We have analyzed a recently described 22q13.3 microdeletion in a child with some overlapping features of the cytologically visible 22q13.3 deletion syndrome. Patient NT, who shows mild mental retardation and delay of expressive speech, was previously

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b5478b5b9ac58de1cc30c31ed0977ca1
http://ora.ox.ac.uk/objects/uuid:c7e3c099-0773-442b-ad02-97b80bf0c771

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Molecular characterization of the marker chromosome associated with cat eye syndrome

Autor: Mears, A. J., Duncan, A. M., Budarf, M. L., Emanuel, B. S., Sellinger, B., Siegel-Bartelt, J., Greenberg, C. R., McDermid, H. E.

Cat eye syndrome (CES) is associated with a supernumerary bisatellited marker chromosome which is derived from duplicated regions of 22pter-22q11.2. In this study we have used dosage and RFLP analyses on 10 CES patients with marker chromosomes, by us

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ed3718f34ddc48f0184d1f5e017c4217
https://europepmc.org/articles/PMC1918240/

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MAPPING OF CHROMOSOME 22Q13.31 TO THE TELOMERE

Autor: Mcdermid, H, Nesslinger, N, Flint, J, Emanuel, B, Budarf, M

Publikováno v: CYTOGENETICS AND CELL GENETICS. 67(4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::791c8be3c67744e2529548211f051c96
http://ora.ox.ac.uk/objects/uuid:e1710384-a390-430c-b628-092a0e063440

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Molecular studies of DiGeorge syndrome

Autor: Fibison, W J, Budarf, M, McDermid, H, Greenberg, F, Emanuel, B S

DiGeorge Syndrome (DGS) is often associated with loss of a portion of the proximal long arm of chromosome 22. Using a probe for the D22S9 locus, we have examined DNA from eight DGS cell lines and from one balanced-translocation carrier parent of a DG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::859145fe8fd43faeefa9245676f0c21d
https://europepmc.org/articles/PMC1683603/

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Akademický článek

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Akademický článek

Mapping and complex expression pattern of the human NPAP60L nucleoporin gene.

Autor: Trichet, V., Shkolny, D., Dunham, I., Beare, D., McDermid, H. E.

Publikováno v: Cytogenetics & Cell Genetics; Jun99, Vol. 85 Issue 3/4, p221-226, 6p

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Akademický článek

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.

Autor: Doheny, K F, McDermid, H E, Harum, K, Thomas, G H, Raymond, G V

Publikováno v: Journal of Medical Genetics; Aug1997, Vol. 34 Issue 8, p640-644, 5p, 1 Color Photograph, 2 Black and White Photographs, 1 Chart

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