Pallister-Killian syndrome
Rare disorder with multiple congenital abnormalities, seizures and mental retardation. Cause is an extra metacentric chromosome 12p only in skin fibroblasts - so that the body is a tissue-specific mosaic.

Dictionary of molecular biology. 2004.

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  • Pallister-Killian syndrome — Pallister Killian syndrome. См. синдром Паллистера Киллиана. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Pallister-Killian syndrome — Infobox Disease Name = Pallister Killian syndrome Caption = ICD10 = ICD10|Q|99|8|q|90 ICD9 = ICD9|758.5 OMIM = 601803 Pallister Killian syndrome (also tetrasomy 12p mosaicism or Pallister mosaic aneuploidy syndrome) is an extremely rare genetic… …   Wikipedia

  • Pallister-Killian syndrome — A condition with multiple malformations at birth and mental retardation due to isochromosome 12p mosaicism (an abnormal chromosome #12 in some cells). * * * Pal·lis·ter Kil·li·an syndrome (palґis tər kilґe ən) [Philip David Pallister,… …   Medical dictionary

  • Pallister-Killian-Syndrom — Klassifikation nach ICD 10 Q99.8 Sonstige näher bezeichnete Chromosomenanomalien[1] …   Deutsch Wikipedia

  • Syndrome, Pallister-Killian — Condition with multiple malformations at birth and mental retardation due to isochromosome 12p mosaicism (an abnormal chromosome #12 in some cells) …   Medical dictionary

  • Síndrome de Pallister-Killian — Clasificación y recursos externos CIE 10 Q99.8 CIE 9 758.5 OMIM …   Wikipedia Español

  • Pallister-Mosaik-Syndrom — Klassifikation nach ICD 10 Q99.8 Sonstige näher bezeichnete Chromosomenanomalien[1] …   Deutsch Wikipedia

  • Tietz syndrome — Not to be confused with Tietze syndrome. Tietz syndrome Classification and external resources ICD 10 E70.3 (ILDS E70.358) OMIM 103500 …   Wikipedia

  • Chédiak–Higashi syndrome — Classification and external resources ICD 10 E70.3 (E70.340 ILDS) ICD 9 288.2 …   Wikipedia

  • Hermansky–Pudlak syndrome — Classification and external resources ICD 10 E70.3 (ILDS E70.360) OMIM 203300 …   Wikipedia

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