| Sign In to gain access to subscriptions and/or personal tools. |
Choroid Plexus Hyperplasia and Monosomy 1p36: Report of New FindingsDepartment of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, New Jersey, Department of Pediatrics, Jersey City Medical Center, Jersey City, New Jersey, surasak1{at}aol.com
Department of Surgery, SUNY Downstate Medical Center, Brooklyn, New York
Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, New Jersey
Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, New Jersey
Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, New Jersey
Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, New Jersey
Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, New Jersey Monosomy 1p36 is a newly delineated multiple congenital anomalies/mental retardation syndrome characterized by mental retardation, growth delay, epilepsy, congenital heart defects, characteristic facial appearance, and precocious puberty. It is now considered to be one of the most common subtelomeric micro-deletion syndromes. This article reports new findings of choroid plexus hyperplasia and dextrocardia with situs solitus in a patient who had deletion of chromosome 1p26.33 with a brief review of the literature.
Key Words: monosomy 1p36 1p36 deletion syndrome microdeletion choroid plexus hyperplasia dextrocardia
Journal of Child Neurology, Vol. 23, No. 8,
922-925 (2008) |
|
||

