WordNet

chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell

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Genetic profile of T-cell acute lymphoblastic leukemias with MYC translocations.

La Starza R1, Borga C2, Barba G1, Pierini V1, Schwab C3, Matteucci C1, Lema Fernandez AG1, Leszl A2, Cazzaniga G4, Chiaretti S5, Basso G2, Harrison CJ3, Te Kronnie G2, Mecucci C1.
Blood.Blood.2014 Dec 4;124(24):3577-82. doi: 10.1182/blood-2014-06-578856. Epub 2014 Sep 30.
MYC translocations represent a genetic subtype of T-lineage acute lymphoblastic leukemia (T-ALL), which occurs at an incidence of ∼6%, assessed within a cohort of 196 T-ALL patients (64 adults and 132 children). The translocations were of 2 types; those rearranged with the T-cell receptor loci and
PMID 25270907

Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry.

Chen CP1, Chen M2, Chen CY3, Chern SR4, Wu PS5, Chang SP6, Kuo YL7, Chen WL3, Pan CW3, Wang W8.
Gene.Gene.2014 Feb 25;536(2):425-9. doi: 10.1016/j.gene.2013.12.036. Epub 2013 Dec 25.
We present prenatal diagnosis and molecular cytogenetic characterization of de novo pure trisomy 6p22.3 → p25.3 encompassing BMP6 in a fetus associated with microcephaly and craniosynostosis on prenatal ultrasound, abnormal maternal serum biochemistry of a low PAPP-A level in the first-trimester c
PMID 24374139

Savarese M1, Grandone A, Perone L, Blanco Fdel V, De Luca G, Di Fruscio G, Fogu G, Piluso G, Perrone L, del Giudice EM, Nigro V.
American journal of medical genetics. Part A.Am J Med Genet A.2013 Jul;161A(7):1675-81. doi: 10.1002/ajmg.a.35928. Epub 2013 May 17.
Several patients with partial trisomy 6p resulting from parental balanced translocations or from a de novo duplication or insertion have already been described. Here, we report on the first case of familial pure trisomy 6p as a result of interstitial tandem duplication. The patient, an 11-year-old f
PMID 23687068

NAKAJIMA WAKO,SAKEMI KIKUO,KOMATSU KAZUO,OKAMURA TOSIHIRO
Tohoku journal of experimental medicine 175(4), 279-284, 1995-04-01
… Partial 6p Trisomy with Abnormal ABR and Hypogenesis of the Corpus Callosum. …
NAID 10024501961