Article
Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletion.
European journal of medical genetics - 1 Jun 2013
Verhoeven Willem M A, Egger Jos I M, Goffin Luc, van Zutven Laura J C M, Mancini Grazia M S
Abstract excerpt
A female patient, 20 years of age, is reported with a history characterized by developmental and psychomotor delay, and during grammar-school period increasing learning problems, ritualistic behaviours and social withdrawal. Subsequently, challenging and autistic-like behaviours became prominent. The patient showed mild facial dysmorphisms, long thin fingers with bilateral mild short V metacarpals, and...
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