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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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Related topics
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2 relations
Broader (2)
Chromosomes, Human, Pair 12
Trisomy
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
R. Śmigiel
,
J. Pilch
,
I. Makowska
,
H. Busza
,
R. Ślęzak
,
M. Sąsiadek
European Journal of Pediatrics
2008
Corpus ID: 1341095
The Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-specific mosaicism for a 12p…
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2006
2006
Moyamoya syndrome in a child with trisomy 12p syndrome.
Y. O. Kim
,
H. Baek
,
Y. Woo
,
Y. Choi
,
T. Chung
Pediatric Neurology
2006
Corpus ID: 43802278
2006
2006
Monosomy 5p and trisomy 12p in a boy with familial balanced translocation
P. Vasudevan
,
M. Parker
Clinical Dysmorphology
2006
Corpus ID: 22761289
We report on a boy with monosomy 5p involving the Cri-du-Chat critical region and trisomy 12p detected by subtelomere study…
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Review
2004
Review
2004
Mosaic ring 12p and total anomalous pulmonary venous return
D. Harris
,
B. L. Siu
,
+4 authors
S. Wenger
American Journal of Medical Genetics. Part A
2004
Corpus ID: 24034595
An infant born with total anomalous pulmonary venous return (TAPVR) was found to have an extra chromosome present as a small ring…
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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…
B. Fritz
,
S. Greber-Platzer
,
+6 authors
C. Fonatsch
American journal of medical genetics
2000
Corpus ID: 37013848
We report on two retarded half-sibs of different sex and seemingly normal karyotype who had the same syndrome of minor anomalies…
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1997
1997
A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype.
H. El-Shanti
,
M. Khasawneh
,
D. Hulsberg
,
H. Major
,
S. Patil
Annales de Genetique
1997
Corpus ID: 27617084
Individuals with free and total trisomy 12 are rare and always mosaic. Incidences of partial trisomy 12 are more frequent and are…
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1979
1979
Two cases of trisomy 12p due to rcpt(12;21)(p11;p11) inherited through three generations
M. Parslow
,
D. Chambers
,
M. Drummond
,
W. Hunter
Human Genetics
1979
Corpus ID: 12148124
SummaryTwo cases of trisomy 12p due to a familial translocation t(12;21) (p11;p11) inherited through three generations are…
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1978
1978
Trisomy 12p syndrome Evaluation of a family with a t(12;21)(p12.1;p11) translocation with unbalanced offspring
I. Hansteen
,
L. Schirmer
,
S. Hestetun
Clinical Genetics
1978
Corpus ID: 26008439
Two brothers (Nos. 1 and 3), with physical and mental retardation and many other clinical characteristics in common, were both…
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1978
1978
Double translocation t(7;12),t(2;6) heterozygosity in one family
J. Bijlsma
,
H. France
,
L. Bleeker-Wagemakers
,
P. Dijkstra
Human Genetics
1978
Corpus ID: 22089069
SummaryDouble translocation heterozygosity t(2;6),t(7;12) in three generations of a Dutch family is described: the segregation of…
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Review
1977
Review
1977
A newborn child with karyotype 47,XX,+der(12) (12pter→12q12::8q24→8qter),t(8;12) (q24;q12) pat
J. Nielsen
,
M. Vetner
,
V. Holm
,
S. Askjær
,
E. Reske‐Nielsen
Human Genetics
1977
Corpus ID: 27544722
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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