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
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Abstract
Pallister-Killian syndrome (PKS) is a rare
genetic disorder usually characterized by mosaic
tetrasomy of isochromosome 12p detected in
cultured fi broblast cells. We describe here a patient
with PKS and intrachromosomal triplication
of the short arm of chromosome 12. Her karyotype
was mos 46,XX,inv trp(12)(p11.2p13)[34]/
46,XX[16] de novo by conventional cytogenetics
and fl uorescent in situ hybridization (FISH)
analysis. However, this chromosomal abnormality
was not detected from the patient’s cultured
blood lymphocytes. We report here the third patient
with intrachromosomal triplication on the
short arm of chromosome 12, presenting a PKS
phenotype.
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