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.
Giraudeau F. , Taine L., Biancalana V., et al. Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletion in a large collection of patients with idiopathic mental retardation . J Med Genet. 2001;38:121-125.
2.
Battaglia A.Del 1p36 syndrome: a newly emerging entity . Brain Dev. 2005;27:358-361.
3.
Shapira SK, McCaskill C., Northrup H., et al. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet. 1997;61:642-650.
4.
Slavotinek A. , Shaffer LG, Shapira SKMonosomy 1p36. J Med Genet . 1999;36:657-663.
5.
Shaffer LG, Heilstedt HATerminal deletion of 1p36. Lancet. 2001;358:Suppl:S9.
6.
Heilstedt HA , Ballif BC, Howard LA, et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome . Am J Hum Genet . 2003;72: 1200-1212.
7.
Neal J., Apse K., Sahin M., et al. Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. Am J Med Genet. 2006;140A:1692-1695.
8.
D'Ambrosio AL , O'Toole JE, Connolly ESVillous hypertrophy versus choroid plexus papillomas: a case report demonstrating a diagnostic role for proliferation index. Pediatr Neurosurg. 2003;39:91-96.
9.
Britz GW, Kim K., Loeser JDHydrocephalus secondary to diffuse villous hyperplasia of the choroid plexus . J Neurosurg. 1996;85:689-691.
10.
Fujimoto Y. , Matsushita H., Please JPHydrocephalus due to diffuse villous hyperplasia of the choroid plexus. Pediatr Neurosurg. 2004;40:32-36.
11.
Yoshino A., Katayama Y., Watanabe T., et al. Multiple choroid plexus papillomas of the lateral ventricle distinct from villous hypertrophy. J Neurosurg. 1998;88:581-585.
12.
Aziz AA, Coleman L., Morokoff A., Maixner W.Diffuse choroid plexus hyperplasia: an under-diagnosed cause of hydrocephalus in children? Pediatr Neurosurg. 2005;35:815-818.
13.
Abernethy LJ , Phelan E., Rosenfeld JVChoroid plexus angioma: a rare cause of cerebral hemorrhage in childhood. Pediatr Radiol. 1992 ;22:138-139.
14.
Ho KLCoroid plexus hemangioma with glial nodules in a premature stillborn study . Clin Neuropathol. 1989;8:98-101.
15.
McEvoy A.w, Harding BN, Phipps KP, et al. Management of choroid plexus tumours in children: 20 years experience at a single neurological centre. Pediatr Neurosurg. 2000;332: 192-199.
