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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

Semantic Scholar uses AI to extract papers important to this topic.
2008
2008
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
Moyamoya syndrome in a child with trisomy 12p syndrome.
2006
2006
Monosomy 5p and trisomy 12p in a boy with familial balanced translocation
We report on a boy with monosomy 5p involving the Cri-du-Chat critical region and trisomy 12p detected by subtelomere study… 
Review
2004
Review
2004
Mosaic ring 12p and total anomalous pulmonary venous return
An infant born with total anomalous pulmonary venous return (TAPVR) was found to have an extra chromosome present as a small ring… 
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… 
1997
1997
A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype.
Individuals with free and total trisomy 12 are rare and always mosaic. Incidences of partial trisomy 12 are more frequent and are… 
1979
1979
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… 
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… 
1978
1978
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… 
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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