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Chromosome 12, 12p trisomy

Known as: Duplication 12p, Trisomy 12p, partial trisomy 12p 
National Institutes of Health

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Broader (2)

Chromosomes, Human, Pair 12Trisomy

Papers overview

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2012
2012
Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.
2007
2007
The Pallister-Killian syndrome in a child with rare karyotype—a diagnostic problem
The Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-specific mosaicism for a 12p… 
2006
2006
The natural history of trisomy 12p
Trisomy of the short arm of chromosome 12 is a rare chromosomal anomaly, with an estimated incidence of 1/50,000 births. It may… 
2004
2004
Two cases of trisomy 12p due to rcpt(12;21)(p11;p11) inherited through three generations
SummaryTwo cases of trisomy 12p due to a familial translocation t(12;21) (p11;p11) inherited through three generations are… 
2004
2004
Genotype/phenotype analysis in a patient with pure and complete trisomy 12p
Reports on patients with pure and complete trisomy 12p are rare. Up to now, 12 cases have been described in the literature. Here… 
2004
2004
Double translocation t(7;12),t(2;6) heterozygosity in one family
SummaryDouble translocation heterozygosity t(2;6),t(7;12) in three generations of a Dutch family is described: the segregation of… 
2000
2000
Familial cryptic translocation with del 4q34-->qter and dup 12pter-->p13 in sibs with tracheal stenosis: clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental…
We report on two retarded half-sibs of different sex and seemingly normal karyotype who had the same syndrome of minor anomalies… 
Review
1996
Review
1996
Cytogenetic and molecular analysis in trisomy 12p.
We studied a male patient with de novo pure trisomy 12p syndrome by molecular analysis and fluorescence in situ hybridization… 
1978
1978
Trisomy 12p syndrome Evaluation of a family with a t(12;21)(p12.1;p11) translocation with unbalanced offspring
Two brothers (Nos. 1 and 3), with physical and mental retardation and many other clinical characteristics in common, were both… 
Review
1977
Review
1977
A newborn child with karyotype 47,XX,+der(12) (12pter→12q12::8q24→8qter),t(8;12) (q24;q12) pat
SummaryA child with karyotype 47,XX,+der (12) (12pter→12q12::8q24→8qter,t(8;12) (q24;q12)pat is presented together with a survey… 
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