Pallister-killian syndrome (pks; mosaic tetrasomy)

General: Variable condition caused by a mosaic tetrasomy of chromosome 12p.

Ocular: Reported manifestations include hy 656h71g pertelorism, narrow palpebral fissures, prominent epicanthal folds, lower eyelid entropion, ptosis, sparse eyebrows, sparse eyelashes, hypoplastic supraorbital ridge, miotic pupils, sluggish pupils, iris atrophy/hypoplasia, iris heterochromia, cataracts, nystagmus, esotropia, exotropia, optic nerve atrophy, oval optic disks, fundus hypopigmentation, amblyopia, and retinal pigmentary mosaicism.

Clinical: Patients have 'coarse' facial features, midface malformations, psychomotor delay, hypotonia, scalp hair sparsity, and variegated lightly and darkly pigmented skin.

Bielanska MM, Khalifa MM, Duncan AM. Pallister-Killian syndrome, a mild case diagnosed by fluorescence in situ hybridization: review of the literature and expansion of the phenotype. Am J Med Genet 1996; 65:104-l08.

Birch M, Patterson A, Fryer A. Hypopigmentation of the fundi associated with Pallister-Killian syndrome. J Pediatr Ophthalmol Strabismus 1995; 32:128-l31.

Graham W, et al. Retinal pigment mosaicism in Pallister-Killian syndrome (mosaic tetrasomy 12p). Arch Ophthalmol 1999; 117:1648-l649.

Horn D, et al. Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts. J Med Genet 1995; 32:68-71.

Horneff G, et al. Pallister-Killian syndrome in older children and adolescents. Pediatr Neurol 1993; 9:312-315.

Pallister PD. The Pallister mosaic syndrome. Birth Defects 1977; 13:103-l10.

Reynolds JF, et al. Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases. Am J Med Genet 1987; 7:257-274.

Schaefer GB, et al. Clinical variability of tetrasomy 120. Clin Genet 1997; 51:102-l08.

Teschler-Nicola M, Killian W. Case report 72: mental retardation, unusual facial appearance, abnormal hair. Syndr Ident 1981; 7:6-7.

Warburton D, Anyane-Yeboa K, Francke U. Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases. Am J Med Genet 1987; 27:275-283.