MOSAIC INTRACHROMOSOMAL TRIPLICATION OF (12)(p11.2p13) IN A PATIENT WITH PALLISTER-KILLIAN SYNDROME

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Yakut S., MIHÇI E., Clark A. O., Cetin Z., KESER İ., Berker S., ...Daha Fazla

BALKAN JOURNAL OF MEDICAL GENETICS, cilt.15, sa.1, ss.61-64, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 1
  • Basım Tarihi: 2012
  • Doi Numarası: 10.2478/v10034-012-0010-2
  • Dergi Adı: BALKAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.61-64
  • Anahtar Kelimeler: Pallister-Killian syndrome (PKS), Tetrasomy 12p, Intrachromosomal triplication, INVERTED DUPLICATED MARKER, TETRASOMY 12P, CHROMOSOME, MECHANISM, 15Q11-Q13, GIRL
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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 karyotype 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.