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Chromosome 12, trisomy 12q
Known as:
Duplication 12q
, Trisomy 12q
National Institutes of Health
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2 relations
Broader (2)
Chromosomes, Human, Pair 12
Trisomy
Papers overview
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Review
2004
Review
2004
Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12
C. Lagier-Tourenne
,
E. Ginglinger
,
+5 authors
E. Jeandidier
American journal of medical genetics. Part A
2004
Corpus ID: 24271732
Partial trisomy 12q and monosomy 12p lead to multiple malformation syndromes. Instead of trisomy 12q that has been reported as a…
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2002
2002
Mosaicism for duplication 12q (12q13→12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant
J. Vermeesch
,
M. Syrrou
,
I. Salden
,
F. Dhondt
,
G. Matthijs
,
J. Fryns
Journal of medical genetics
2002
Corpus ID: 8322137
While several case reports describe partial trisomy 12qter, reports of interstitial 12q duplications are extremely rare. We…
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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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Review
1995
Review
1995
Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q.
C. Koiffmann
,
C. González
,
A. Vianna-Morgante
,
C. Kim
,
V. Odone‐Filho
,
A. Wajntal
American journal of medical genetics
1995
Corpus ID: 33412791
Deletion 11q23-->qter and duplication 12q23-->qter are described in a boy with neuroblastoma, multiple congenital anomalies, and…
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