Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

Genomic single-copy DNA fragments were used to characterize an undetected chromosome translocation in an individual whose metaphase chromosome analysis revealed apparent monosomy 21. Eight RFLPs detected by six probes were used to identify homologous sequences from chromosome 21 in DNA digests from...

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Main Authors: Phelan, M C, Morton, C C, Stevenson, R E, Tanzi, R E, Stewart, G D, Watkins, P C, Gusella, J F, Amos, J A
Format: Artigo
Sprog:Inglês
Udgivet: 1988
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715513/
https://ncbi.nlm.nih.gov/pubmed/2902789
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