Choroid plexus hyperplasia and monosomy 1p36: report of new findings.
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.
Puvabanditsin
Surasak
S
Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, New Jersey, USA. surasak1@aol.com
Garrow
Eugene
E
Patel
Neisha
N
D'Elia
Alexis
A
Zaafran
Ahmed
A
Phattraprayoon
Nanthida
N
Davis
Suzanne Elizabeth
SE
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002653:Child Behavior Disorders / Q000175:diagnosis / Q000235:genetics; D002831:Choroid Plexus / Q000002:abnormalities* / Q000473:pathology*; D002872:Chromosome Deletion; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D003914:Dextrocardia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D006965:Hyperplasia; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009006:Monosomy / Q000235:genetics*; D020288:Papilloma, Choroid Plexus / Q000175:diagnosis / Q000235:genetics; D016728:Self-Injurious Behavior / Q000175:diagnosis / Q000235:genetics; D014057:Tomography, X-Ray Computed