Journal
JOURNAL OF HUMAN GENETICS
Volume 60, Issue 6, Pages 313-317Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2015.22
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- Sheffield Children's Hospital Charity
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Interstitial deletions of the long arm of chromosome 20 are rarely reported in the literature. We report a 2-year-old child with a 2.6 Mb deletion of 20q13.32-q13.33, detected by microarray-based comparative genomic hybridization, who presented with poor growth, feeding difficulties, abnormal subcutaneous fat distribution with the lack of adipose tissue on clinical examination, facial dysmorphism and low bone mass. This report adds to rare publications describing constitutional aberrations of chromosome 20q, and adds further evidence to the fact that deletion of the GNAS complex may not always be associated with an Albright's hereditary osteodystrophy phenotype as described previously.
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