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Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes.

Genetics and molecular research : GMR - 22 Feb 2016

Rocha C F, Vasques R B, Santos S R, Paiva C L A

Abstract excerpt

The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms. The objective of this study was to review the cases of 1p36 deletion that was reported between 1999 and 2014, in order to identify a possible correlation between the size of the 1p36-deleted segment and the clinical phenotype of the disease. Scientific articles...

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PMID: 26910004
DOI: 10.4238/gmr.15017942

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