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Deletion 2q37: An Identifiable Clinical Syndrome With Mental Retardation and Autism

Department of Neuroscience, Pediatric Neurology Unit, University of Rome, cinzia.galasso{at}uniroma2.it

Adriana Lo-Castro, MD

Department of Neuroscience, Pediatric Neurology Unit, University of Rome

Cristina Lalli, MD

Department of Neuroscience, Pediatric Neurology Unit, University of Rome

Anna Maria Nardone

Department of Medical Genetics "Tor Vergata" University of Rome, Rome, Italy

Francesca Gullotta

Department of Medical Genetics "Tor Vergata" University of Rome, Rome, Italy

Paolo Curatolo, MD

Department of Neuroscience, Pediatric Neurology Unit, University of Rome

Terminal deletion of the long arm of chromosome 2 is a rare chromosomal disorder characterized by low birth weight, delayed somatic and mental development, craniofacial defects, short neck, heart and lung congenital defects, and autistic features. We report on a girl with 46,XX.ish del(2)(q37.1) de novo karyotype, mental retardation, dysmorphic features, gastrointestinal anomalies, and autistic traits and compare her clinical manifestations with patients with the same deletion previously described in literature.

Key Words: chromosome 2q syndrome • 2q deletion syndrome • monosomy 2q • mental retardation • autism

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