Article
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
Orphanet journal of rare diseases - 7 Feb 2017
Le Quesne Stabej Polona, James Chela, Ocaka Louise, Tekman Mehmet, Grunewald Stephanie, Clement Emma, Stanescu Horia C, Kleta Robert, Morrogh Deborah, Calder Alistair, Williams Hywel J, Bitner-Glindzicz Maria
Abstract excerpt
BACKGROUND: We describe molecular diagnosis in a complex consanguineous family: four offspring presented with combinations of three distinctive phenotypes; non-syndromic hearing loss (NSHL), an unusual skeletal phenotype comprising multiple fractures, cranial abnormalities and diaphyseal expansion, and significant developmental delay with microcephaly. We performed Chromosomal Microarray Analysis on the offspring...
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