<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Pallister-Killian syndrome (PKS) is a rare genetic disorder usually characterized by mosaic tetrasomy of isochromosome 12p detected in cultured fibroblast cells. We describe here a patient with PKS and intrachromosomal triplication of the short arm of chromosome 12. Her karyo-type was mos 46, XX, inv trp(12)(p11.2p13)[34]/46, XX[16] <italic>de novo</italic> by conventional cytogenetics and fluorescent <italic>in situ</italic> 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.</p></abstract>

Pallister-Killian syndrome (PKS) is a rare genetic disorder usually characterized by mosaic tetrasomy of isochromosome 12p detected in cultured fibroblast cells. We describe here a patient with PKS and intrachromosomal triplication of the short arm of chromosome 12. Her karyo-type was mos 46, XX, inv trp(12)(p11.2p13)[34]/46, XX[16] de novo by conventional cytogenetics and fluorescent 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.

Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome

Department of Medical Biology and Genetics, School of Medicine, Akdeniz University, Antalya, Turkey

Department of Pediatric Genetics, School of Medicine, Akdeniz University, Antalya, Turkey

Department of Medical Genetics, School of Medicine, Akdeniz University, Antalya, Turkey

Balkan Journal of Medical Genetics

Pallister-Killian syndrome (PKS) is a rare genetic disorder usually characterized by mosaic tetrasomy of isochromosome 12p detected in cultured fibroblast...

Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome

Data publikacji: 20 lip 2012

Zakres stron: 61 - 64

DOI: https://doi.org/10.2478/v10034-012-0010-2

Słowa kluczowe
Pallister-Killian syndrome (PKS), Tetrasomy 12p, Intrachromosomal triplication

This content is open access.

Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome

Data publikacji: 20 lip 2012

Zakres stron: 61 - 64

DOI: https://doi.org/10.2478/v10034-012-0010-2

Słowa kluczowePallister-Killian syndrome (PKS), Tetrasomy 12p, Intrachromosomal triplication

This content is open access.

Słowa kluczowe
Pallister-Killian syndrome (PKS), Tetrasomy 12p, Intrachromosomal triplication