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Borderline intelligence and discrete craniofacial dysmorphism in an adolescent female with partial trisomy 7p due to a de novo tandem duplication 7 (p15.1-->p21.3).
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1994
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Adolescent FemaleGeneticsMotor DevelopmentMolecular GeneticsBorderline IntelligenceCraniofacial AnomaliesCraniofacial DevelopmentAbnormal DevelopmentDisorders Of Sex DevelopmentVariant InterpretationTandem Duplication 7Craniofacial GrowthDevelopmental AnomalyDevelopmental BiologyGenetic DisorderPediatricsMedical GeneticsCraniofacial SurgeryMedicineCraniofacial Disorder
Dans cet article nous rapportons une fille âgee de 14 ans avec dysmorphie craniofaciale discrete, intelligence a la limite de la normale et retard de developpement moteur comme signes uniques d'une trisomie partielle 7p par de novo tandem duplication 7 (p15.1→p21.3)