Chromosome 12, 12p trisomy

We report on monochorionic diamniotic male twins discordant for the trisomy 12p syndrome. Trisomy 12p mosaicism with a… (More)

Trisomy of 12p is a rare chromosomal abnormality, which sometimes coexists with other chromosomal anomalies. We report on a… (More)

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

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

Cases of tetrasomy 12p and trisomy 12p are known to be associated with specific phenotypic abnormalities well described in the… (More)

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

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

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

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

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