Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation.
Pallister Killian syndrome (PKS) is a rare genetic disorder caused by tetrasomy of the short arm of chromosome 12, revealed usually in mosaic distribution of an extra i (12) (p10) chromosome in fibroblasts. The syndrome presents with a recognizable pattern of findings including pigmentary skin changes, coarse face, high forehead, sparse anterior scalp hair, hypertelorism, seizures and progressive psychomotor developmental delay. It was first described independently by Pallister in 1977 and by Killian and Teschler-Nikola in 1981. We report a case of 21 month old girl with PKS and significant overgrowth. Cytogenetic analysis was performed using the GTG banding technique. The karyotype of cultured lymphocytes was normal. The karyotype from skin fibroblasts was established as mosaic tetrasomy of 12p 47,XX,+i (12) (p10)/46,XX. The origin of the extra marker chromosome was determinated by fluorescence in situ hybridization with chromosome 12 specific DNA probes confirming that supernumerary marker is chromosome i (12p) in 68% of cells. Despite the excessive postnatal growth we found low serum growth hormone levels and reduced response to pharmacological stimulation test. This is also the first report of a postnatal patient in our country.
Frković
Sanda Huljev
SH
Division of Genetics and Metabolism, Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia. sanda.huljev@zg.t-com.hr
Durisević
Ivana Tonković
IT
Trcić
Ruzica Lasan
RL
Sarnavka
Vladimir
V
Gornik
Kristina Crkvenac
KC
Muzinić
Dubravka
D
Letica
Ljiljana
L
Barić
Ivo
I
Begović
Davor
D
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology*; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D005819:Genetic Markers; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008214:Lymphocytes / Q000473:pathology; D010859:Pigmentation Disorders / Q000235:genetics / Q000473:pathology*
D005819:Genetic Markers