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Cryptic subtelomeric translocations in the 22q13 deletion syndrome

Cryptic subtelomeric rearrangements are suspected to underlie a substantial portion of terminal chromosomal deletions. We have previously described two children, one with an unbalanced subtelomeric rearrangement resulting in deletion of 22q13→qter and duplication of 1qter, and a second with an appar...

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Bibliografiske detaljer
Main Authors: Praphanphoj, V., Goodman, B., Thomas, G., Raymond, G.
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2000
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734436/
https://ncbi.nlm.nih.gov/pubmed/10633138
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.1.58
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