Article
Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2001
Smeets E, Vandenbossche L, Fryns J P
Abstract excerpt
Whereas in the great majority of autosomal duplications/deficiencies a clinically recognizable dysmorphic syndrome is present, distal 3p duplication is not associated with major dysmorphic signs. We present the clinical data and molecular cytogenetic findings in two non-related patients. Diagnosis was made in a female child at the age of 5 months because of psychomotor retardation and slight dysmorphism. She also...
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