Balkan Journal of Medical Genetics

MOSAIC INTRACHROMOSOMAL TRIPLICATION OF (12)(p11.2p13) IN A PATIENT WITH PALLISTER-KILLIAN SYNDROME
Yakut S, Mıhcı E, Altiok Clark O, Cetin Z, Keser I, Berker S, Luleci G
*Corresponding Author: Professor Dr. Guven Luleci, Department of Medical Biology and Genetics, School of Medicine, Akdeniz University, Arapsuyu, Antalya, Turkey; Tel.: +90-242-249-69-70; Fax: + 90- 242-227-44-95; E-mail: luleci@akdeniz.edu.tr
page: 61

INTRODUCTION

Pallister-Killian syndrome (PKS, OMIM #601803) is a rare sporadic disorder caused by mosaicism for tetrasomy of the short arm of chromosome 12 resulting from an supernumerary isochromosome 12p [1,2]. The karyotype in the cultured blood lymphocytes is normal in most cases, but one supernumerary isochromosome 12p is present in high percentage in cultured skin fi broblasts and bone marrow cells of the patients [3]. Supernumerary analphoid inverted duplicated chromosome 12p and a supernumerary ring chromosome consisting of two copies of chromosome 12p have also been reported in the rare cases with PKS [4,5]. Clinical features of this syndrome include; mental retardation, pigmentary skin abnormalities, seizures, prominent forehead with temporal balding, hypertelorism, short nose, short neck, fl at nasal bridge, fl at occiput and macrosomia [6,7]. Intrachromosomal triplications leading to partial tetrasomies of the certain chromosome 12 regions have been reported in two patients [8,9]. In this report, we present the third patient who has mosaic intrachromosomal triplication on the short arm of chromosome 12.

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