Article
Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases.
European journal of medical genetics - 1 Jul 2013
Poot Martin, Verrijn Stuart Annemarie A, van Daalen Emma, van Iperen Andries, van Binsbergen Ellen, Hochstenbach Ron
Abstract excerpt
Patients with trisomy or tetrasomy of distal 15q show a recognizable overgrowth syndrome, whereas patients with a monosomy of 15q26 share some degree of pre- and postnatal growth retardation, but differ with respect to facial and skeletal dysmorphisms, congenital heart disease and intellectual development. By reviewing 16 cases with losses of 15q26 we found that the size of the deletion was also not a predictor...
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