WordNet

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

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

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

A patient with duplication (7)(p15.3p22.3) and deletion (7)(p22.3pter) characterized by array-CGH.

Geckinli BB, Aydin H, Karaman A.
Genetic counseling (Geneva, Switzerland).Genet Couns.2014;25(4):405-12.
We report a patient with neurodevelopmental delay, hypotonia, congenital cardiac anomaly and dysmorphic features such as macrocephaly, a large anterior fontanel, prominent forehead, short neck, downslanted and short palpebral fissures, hypertelorism, wide nasal bridge, straight, thin nose with asymm
PMID 25804019

Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.

Schmidt B1, Udink ten Cate F, Weiss M, Koehler U.
European journal of pediatrics.Eur J Pediatr.2012 Jul;171(7):1047-53. doi: 10.1007/s00431-012-1682-z.
We report two unbalanced translocations involving the short arms of chromosomes 7 and 18 due to a balanced translocation 7;18 in the mother. Karyotyping and fluorescence in situ hybridization analysis of the female fetus revealed an unbalanced subtelomeric translocation(karyotype 46,XX,der(18)t(7;18
PMID 22302461

Facial phenotype of 7p trisomy : A new delineated chromosomal syndrome? : Abstracts of Papers Presented at the Thirty-Third Annual Meeting of the Japanese Teratology Society Nagoya, Japan, July 21-23, 1993

Trisomy 7p associated with familial 7q;14p translocation : ABSTRACTS OF PAPERS PRESENTED at the TWENTY-SEVENTH ANNUAL MEETING of the JAPANESE TERATOLOGY SOCIETY TOKYO, JAPAN, JULY 17-18, 1987