Disease: Chromosome 12- trisomy 12q
- 12pter to 12p12.2: possible assignment of human triose phosphate isomerase
- 14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma
- A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations
- A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother
- A PATIENT WITH PARTIAL CHROMOSOME 12q DUPLICATION AND 10q DELETION
- A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype
- Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia
- Anatomy of trisomy 12
- Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation
- Centric fission, centromere-telomere fusion and isochromosome formation: a possible origin of a de novo 12p trisomy
- Centromere-telomere (12;8p) fusion, telomeric 12q translocation, and i(12p) trisomy
- Chromosome analysis of parallel short-term cultures from four testicular germ-cell tumors
- Clinical delineation of a patient with trisomy 12q23q24
- CLINICAL REPORT OF A PATIENT WITH DE NOVO TRISOMY 12q23.1q24.33
- Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya
- Cytogenetic studies in patients with Richter's syndrome
- Cytogenetics of mantle cell lymphoma
- Drug-perturbation-based stratification of blood cancer
- dup(12)(q13----qter) in two t(14;18)-negative follicular B-non-Hodgkin's lymphomas
- Duplication 12q mosaicism in two unrelated patients with a similar syndrome
- Evolution of multiple cell clones over a 29-year period of a CLL patient
- Familial Congenital Facial Synkinesis Due to 12q Duplication: A Case Report and Literature Review
- Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic features
- FISH identifies different types of duplications with 12q13-15 as the commonly involved segment in B-cell lymphoproliferative malignancies characterized by partial trisomy 12
- Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing
- Gains and complex rearrangements of the 12q13-15 chromosomal region in ordinary lipomas: the "missing link" between lipomas and liposarcomas?
- i(12q) in B-cell chronic lymphocytic leukemia
- Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome
- Mosaic trisomy 12 at amniocentesis: prenatal diagnosis and molecular genetic analysis
- Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant
- Partial 10q trisomy with partial 12q monosomy
- Partial 12q trisomy and chylothorax
- Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome
- Partial distal 12q trisomy
- Partial distal 12q trisomy with arachnoid cyst
- Partial monosomy 11q and trisomy 12q: variable expression in two siblings
- Partial trisomy 12q
- Partial trisomy 12q associated with a familial translocation
- Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21→qter) and partial monosomy 6q (6q27→qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold
- Prenatal diagnosis of a micropenis in a male fetus with partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->ter-->qter)
- Prenatal diagnosis of congenital chylothorax associated with de novopartial trisomy 12q (12q21.2-->qter)
- Prenatal diagnosis of partial trisomy 12q: clinical presentations and outcome
- Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter)
- Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies
- Pure trisomy 2p syndrome in two siblings with an unbalanced translocation and minimal terminal 12q monosomy characterized by high-density microarray
- Reassessment of a chromosome 12q+ marker by fluorescent in situ hybridization (FISH)
- Serum angiogenin is not elevated in patients with early B-cell chronic lymphocytic leukemia but is prognostic factor for disease progression
- Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter)
- Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome
- TBK1 and flanking genes in human retina
- The relationship between typical and atypical B-cell chronic lymphocytic leukemia. A comparative genomic hybridization-based study
- The use of a specific clinical history in counselling a family with the balanced translocation 46,XY,t(4;12)(p15.2;q21.3): viable offspring with partial monosomy 4p and trisomy 12q
- Trisomy (12p) with telocentric and pseudoisodicentric chromosome formation in a fetus
- Trisomy 12 resulting from isochromosomes of both 12p and 12q in a case of B-CLL
- Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12
- Uterine leiomyoma cytogenetics
- V(H) mutation status, CD38 expression level, genomic aberrations, and survival in chronic lymphocytic leukemia
- Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier