Pallister-Killian syndrome

Known as: Isochromosome 12p syndrome, tetrasomy 12p, Teschler-Nicola-Killian Syndrome 
A very rare chromosomal disorder caused by tetrasomy of chromosome 12p. It is characterized by severe mental retardation, prominent forehead, sparse… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1954-2017
010203019542016

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
PATIENT Male, 0 FINAL DIAGNOSIS: Pallister-Killian syndrome Symptoms: Decidious tooth • flattened nasal bridge • frontal bossing… (More)
  • figure 2
  • figure 3
  • table 1
Is this relevant?
Highly Cited
2012
Highly Cited
2012
DINESH KHANNA, JOHN D. FITZGERALD, PUJA P. KHANNA, SANGMEE BAE, MANJIT K. SINGH, TUHINA NEOGI, MICHAEL H. PILLINGER, JOAN MERILL… (More)
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • table 2
Is this relevant?
2012
2012
Pallister-Killian syndrome is a sporadic disorder caused by the presence of mosaic tetrasomy of the short arms of chromosome 12… (More)
  • table I
  • figure 1
Is this relevant?
2008
2008
Pallister-Killian syndrome (PKS) is a sporadic chromosomal anomaly, caused by a tissue-specific mosaic distribution of an… (More)
Is this relevant?
2007
2007
We report the case of a 19-month-old boy with Pallister-Killian syndrome associated with West syndrome. The child was born at… (More)
Is this relevant?
2000
2000
Pallister-Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an… (More)
Is this relevant?
1997
1997
Pallister-Killian syndrome is a rare disorder comprising multiple congenital anomalies, streaks of hypo(hyper)pigmentation… (More)
Is this relevant?
1990
1990
We describe a case of Pallister-Killian syndrome ascertained by routine amniocentesis as i(12p). The i(12p) was also found in 4… (More)
Is this relevant?
1988
1988
SummaryPallister-Killian syndrome is characterized by specific dysmorphic features and tissue-limited mosaicism for tetrasomy 12p… (More)
  • figure 1
  • table 1
  • figure 2
  • figure 3
  • table 2
Is this relevant?
1987
1987
Pallister-Killian syndrome is a dysmorphic syndrome characterized by a tissue-limited mosaicism: a majority of fibroblasts have… (More)
Is this relevant?