Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.

We report a female infant with congenital dislocation of the knee and dysmorphic features including a prominent forehead, midface hypoplasia, and micrognathia. Fluorescence in situ hybridisation and PCR amplification of microsatellite repeats were used to show that she had a de novo unbalanced trans...

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Bibliographic Details
Main Authors: Houlston, R S, Renshaw, R M, James, R S, Ironton, R, Temple, I K
Format: Artigo
Language:Inglês
Published: 1994
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016665/
https://ncbi.nlm.nih.gov/pubmed/7853376
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