Výsledky vyhledávání - "B. C. C. Davison"

Clinical and hematologic aspects of the X-linked α-thalassemia/mental retardation syndrome (ATR-X)

Autor: R. J. Gibbons, L. Brueton, V. J. Buckle, J. Burn, J. Clayton-Smith, B. C. C. Davison, R. J. M. Gardner, T. Homfray, L. Kearney, H. M. Kingston, R. Newbury-Ecob, M. E. P. Porteous, A. O. M. Wilkie, D. R. Higgs

Publikováno v: American Journal of Medical Genetics. 55:288-299

The hallmarks of the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome are severe psychomotor retardation, minor facial anomalies, genital abnormalities, and an unusual form of alpha-thalassemia. The demonstration of HbH inclusions in re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c45f431c63e13739bfda0bb7d0f6aa2b
https://doi.org/10.1002/ajmg.1320550309

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An autosomal dominant syndrome of renal and anogenital malformations with syndactyly

Autor: R. N. Sandford, A. J. Green, B. C. C. Davison

Publikováno v: Journal of Medical Genetics. 33:594-596

We describe a family with autosomal dominant inheritance of anal anomalies, renal tract abnormalities, genital malformations, and syndactyly. These clinical manifestations do not clearly fall into any previously described syndrome. A mother and daugh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b49db8bde17f31e061870cde495bc58
https://doi.org/10.1136/jmg.33.7.594

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Trisomy 20q caused by der (X)t(X;20)(q28;q11.2)

Autor: D. A. Aitken, J. J. Waters, B. C. C. Davison, D. S. Gourley

Publikováno v: American Journal of Medical Genetics. 36:310-312

A first case of "pure" trisomy 20q (q11.2-qter) is described in a female child with minor anomalies and developmental delay. This resulted from the inheritance, from a carrier mother, of an abnormal X chromosome: der (X)t(X;20)(q28;q11.2). Involvemen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa277b60a515a389500891e392708251
https://doi.org/10.1002/ajmg.1320360313

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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/

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Alagille syndrome and deletion of 20p

Autor: E. Eastham, R. Mueller, F. Anad, I. Cross, D. Matthews, John Burn, D. M. Lillington, M. Sands, B. C. C. Davison

Publikováno v: Journal of medical genetics. 27(12)

We add five cases of 20p deletion to the 10 cases already published. Four had craniofacial, vertebral, ocular, and cardiovascular features of Alagille syndrome, which adds weight to the assignment of this disorder to the short arm of chromosome 20. I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::083487e03cd084d04dcf3b24a621d984
https://pubmed.ncbi.nlm.nih.gov/2074558

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X-linked dominant chondrodysplasia punctata: a case report and family studies

Autor: R. F. Mueller, John M. Opitz, James F. Reynolds, R. A. K. Jones, B. C. C. Davison, P. M. Crowle

Publikováno v: American journal of medical genetics. 20(1)

Two major types of chondrodysplasia punctata have been delineated; a severe, recessively inherited, rhizomelic form and the less severe, dominantly inherited Conradi-Hunerman form. Clinico-genetic analysis of this latter form of CP uncovered a sub-gr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::347676081aa25731e991d1a166dcd638
https://pubmed.ncbi.nlm.nih.gov/4038582

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