Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

Karaman B., Kayserili H., Ghanbari A., Uyguner Z. O., Toksoy G., Altunoglu U., ...Daha Fazla

MOLECULAR CYTOGENETICS, cilt.11, 2018 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1186/s13039-018-0395-z
  • Dergi Adı: MOLECULAR CYTOGENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: OMIM 601803, Pallister-Killian syndrome, Somatic mosaicism, Mosaic tetrasomy 12p, Isochromosome 12p, Parental origin, Small supernumerary marker chromosome, MOSAIC TETRASOMY 12P, MEIOSIS II NONDISJUNCTION, IN-SITU HYBRIDIZATION, ISOCHROMOSOME 12P, PARENTAL ORIGIN, TRISOMY 12P, PIGMENTARY ANOMALIES, EXTRA ISOCHROMOSOMES, PRENATAL-DIAGNOSIS, SOMATIC MOSAICISM
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background: Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue-limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p.