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Molecular and cytogenetic analysis of a familial microdeletion of Xq.

Cytogenetic analysis of a male infant referred for poor neurological development and failure to thrive showed a microdeletion of the X chromosome, his karyotype being 46,Y,del(X)(pter----q21.1:: q21.2----qter). His mother and grandmother were also found to carry the deletion. DNA probes were used to...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:J Med Genet
Päätekijät: Wells, S, Mould, S, Robins, D, Robinson, D, Jacobs, P
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Publishing Group 1991
Aiheet:
Linkit:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016798/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1675684/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.3.163
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