Chromosome 12, 12p trisomy

The Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-specific mosaicism for a 12p… Expand

Trisomy of the short arm of chromosome 12 is a rare chromosomal anomaly, with an estimated incidence of 1/50,000 births. It may… Expand

A female, 2 years and 7 months of age, was admitted to the hospital with stupor and nystagmus following projectile vomiting. She… Expand

SummaryTwo cases of trisomy 12p due to a familial translocation t(12;21) (p11;p11) inherited through three generations are… Expand

SummaryDouble translocation heterozygosity t(2;6),t(7;12) in three generations of a Dutch family is described: the segregation of… Expand

Reports on patients with pure and complete trisomy 12p are rare. Up to now, 12 cases have been described in the literature. Here… Expand

Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome: We… Expand

We report on two retarded half-sibs of different sex and seemingly normal karyotype who had the same syndrome of minor anomalies… Expand

We studied a male patient with de novo pure trisomy 12p syndrome by molecular analysis and fluorescence in situ hybridization… Expand

Two brothers (Nos. 1 and 3), with physical and mental retardation and many other clinical characteristics in common, were both… Expand