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De novo simultaneous reciprocal translocation and deletion.

A female infant with severe mental retardation, general hypotonicity, and a history of generalised oedema, cyanosis, heart murmur, and nystagmus in the first days of life was found to have both a translocation and a deletion. Her karyotype was 46,XX,del(21)t(18;21)(18p ter leads to 18q11::21q21 lead...

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Détails bibliographiques
Publié dans:J Med Genet
Auteurs principaux: Fries, K, Mundel, G, Rosenblatt, M
Format: Artigo
Langue:Inglês
Publié: BMJ Publishing Group 1978
Sujets:
Accès en ligne:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013666/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/641951/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.15.2.152
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