Article
Strong variable clinical presentation in 3 patients with 7q terminal deletion.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1998
Frints S G, Schrander-Stumpel C T, Schoenmakers E F, Engelen J J, Reekers A B, Van den Neucker A M, Smeets E, Devlieger H, Fryns J P
Abstract excerpt
We report 3 patients with a 7q terminal deletion. The first, a 7 weeks old female, with a de novo 7q36-->qter deletion, was microcephalic and had a partial hypoplasia of the corpus callosum on the MRI-scan of the brain. The second, a 3 months old male, showed microcephaly, disproportionate growth retardation, truncal obesity and facial dysmorfism giving the clinical impression of a "microcephalic primordial...
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