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Chromosome 12, 12p trisomy

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

Related topics

Related topics

2 relations

Broader (2)

Chromosomes, Human, Pair 12Trisomy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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… Expand
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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… Expand
2006
2006
Moyamoya syndrome in a child with trisomy 12p syndrome.
A female, 2 years and 7 months of age, was admitted to the hospital with stupor and nystagmus following projectile vomiting. She… Expand
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… Expand
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… Expand
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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… Expand
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Review
2004
Review
2004
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… Expand
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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… Expand
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… Expand
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… Expand
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