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B-Cell Acute Lymphoblastic Leukemia with iAMP21 in a Patient with Constitutional Ring Chromosome 21.
Baloda V, Aggarwal N, Rosado FG, Mackey S, Felker J, Yatsenko SA. Baloda V, et al. Cytogenet Genome Res. 2022;162(5):231-236. doi: 10.1159/000527025. Epub 2022 Dec 9. Cytogenet Genome Res. 2022. PMID: 36502796
Here, we report the development of B-ALL with iAMP21 in a 9-year-old child with a constitutional ring chromosome 21, r(21)c, uncovered after B-ALL diagnosis. Cytogenetic and microarray analysis of the post-therapy sample revealed an abnormal chromosome 21 lac …
Here, we report the development of B-ALL with iAMP21 in a 9-year-old child with a constitutional ring chromosome 21, r( …
Ring chromosome 21.
Zergollern L, Muzinić D, Raic Z. Zergollern L, et al. Acta Med Iugosl. 1989;43(2):147-56. Acta Med Iugosl. 1989. PMID: 2741714
A case of a rare anomaly of the human karyotype--ring chromosome 21--is presented. By analysing the prenatal amniotic fluid of a 38-year-old woman asking genetic advice, primarily because of a cystic fibrosis burdening her first pregnancy, the authors discove …
A case of a rare anomaly of the human karyotype--ring chromosome 21--is presented. By analysing the prenatal amniotic f …
Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR.
Valero R, Marfany G, Gil-Benso R, Ibáñez MA, López-Pajares I, Prieto F, Rullan G, Sarret E, Gonzàlez-Duarte R. Valero R, et al. J Med Genet. 1999 Sep;36(9):694-9. J Med Genet. 1999. PMID: 10507727 Free PMC article.
All trisomic patients carried unbalanced translocations involving chromosome 21, whereas one of the monosomic patients bore a ring chromosome 21 and another showed an interstitial deletion of chromosome 21. ...Although these latter patients do not show all th …
All trisomic patients carried unbalanced translocations involving chromosome 21, whereas one of the monosomic patients bore a ring …
Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21.
Crombez EA, Dipple KM, Schimmenti LA, Rao N. Crombez EA, et al. Clin Dysmorphol. 2005 Oct;14(4):183-187. Clin Dysmorphol. 2005. PMID: 16155419
Individuals with a ring chromosome 21, containing duplicated material, typically have a phenotype consistent with Down syndrome. We report an infant with a ring chromosome 21 containing a duplication of most of the long arm, including the …
Individuals with a ring chromosome 21, containing duplicated material, typically have a phenotype consistent with Down …
Amplification of the AML1(CBFA2) gene on ring chromosomes in a patient with acute myeloid leukemia and a constitutional ring chromosome 21.
Streubel B, Valent P, Lechner K, Fonatsch C. Streubel B, et al. Cancer Genet Cytogenet. 2001 Jan 1;124(1):42-6. doi: 10.1016/s0165-4608(00)00318-6. Cancer Genet Cytogenet. 2001. PMID: 11165321
We report a phenotypically normal patient with a constitutional ring chromosome 21 who developed acute myeloid leukemia (AML). The leukemic cells revealed size-variable ring chromosomes 21 with amplification of the proto-oncogene AML1, located in the chromoso …
We report a phenotypically normal patient with a constitutional ring chromosome 21 who developed acute myeloid leukemia …
Tandem duplication chromosome 21 in the offspring of a ring chromosome 21 carrier.
Miller K, Reimer A, Schulze B. Miller K, et al. Ann Genet. 1987;30(3):180-2. Ann Genet. 1987. PMID: 2960262
A direct tandem duplication chromosome 21 was found in a boy with Down's syndrome. The proband's mother and grandmother both carried a ring chromosome 21. The observed duplication chromosome in the child may be explained either by recombination between …
A direct tandem duplication chromosome 21 was found in a boy with Down's syndrome. The proband's mother and grandmother both carried a ri …