Partial trisomy 8: Trisomy of the distal part of the long arm of chromosome number 8+(8q2) in a severely retarded and malformed girl

1974 ◽  
Vol 24 (3) ◽  
Author(s):  
J.P. Fryns ◽  
H. Verresen ◽  
H. Berghe ◽  
J. Kerckvoorde ◽  
J.J. Cassiman
Keyword(s):  
Chromosome Number ◽  
Distal Part ◽  
Partial Trisomy ◽  
Trisomy 8

Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8

2011 ◽  
Vol 155 (7) ◽  
pp. 1740-1744 ◽  
Author(s):  
Eyby Leon ◽  
Seema M. Jamal ◽  
Ying S. Zou ◽  
Jeff M. Milunsky
Keyword(s):  
Partial Trisomy ◽  
Chromosome 8 ◽  
Trisomy 8

Clinical and Genetic Features of Constitutional Partial Trisomy 8 Mosaicism (CT8M) Patients with Cytopenia

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 5413-5413
Author(s):  
Yuta Yamada ◽  
Noriko Doki ◽  
Yuka Harada ◽  
Yuki Otsuka ◽  
Ryosuke Konuma ◽  
...  
Keyword(s):  
Mononuclear Cells ◽  
Conflicts Of Interest ◽  
Gene Mutations ◽  
Partial Trisomy ◽  
Initial Diagnosis ◽  
Red Blood Cell Transfusion ◽  
Occurrence Rate ◽  
Driver Gene ◽  
Trisomy 8 ◽  
Genetic Features

Background Constitutional partial trisomy 8 mosaicism (CT8M) is a congenital chromosomal abnormality with an estimated occurrence rate as one out of 25,000-50,000 pregnancies. CT8M has a wide variability in physical manifestation ranging from apparently normal to severe disablement. However, diagnosis of CT8M in adult without physical abnormality is difficult . Acquired trisomy 8, which is restricted to the malignant cells, is one of the most common chromosomal abnormalities in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), and clinical implication of carrying isolated trisomy 8 is considered as intermediate cytogenetic risk in MDS. However, isolated trisomy 8 without morphological dysplastic features is not definitive evidence for MDS. 15 to 20% of trisomy 8 in MDS are supposed to be derived from CT8M. We therefore diagnosed CT8M patients among patients with cytopenia and analyzed clinical and genetic features to uncover the association with MDS. Methods . Clinical features including cytogenetic analysis were analyzed regularly. Genomic DNA was extracted from whole PB cells or BM mononuclear cells. We performed targeted next-generation sequencing to identify mutations in 68 driver genes of myeloid neoplasms using AmpliSeq for Illumina Myeloid Panel and On-Demand Panel on the MiniSeq system (Illumina). Gene variants were detected by in-house analysis pipeline. The study was approved by the institutional review board and patients gave written informed consent for the study. Results We identified nine CT8M patients with cytopenia.They comprised 3 males and 6 females at a median age of 56 years (range 24-84 years) (Table). All the patients carried no physical abnormality nor conspicuous phenotypic features. Four patients (Patient #3, #4, #6 and #7) did not show apparent morphological dysplasia at the initial BM examination, and they were not diagnosed as MDS. Their cytopenia has not been exacerbated until now without any treatment, and the duration of stable cytopenia was from 2 to 12 years in these patients. By contrast, five patients with CT8M were diagnosed as MDS . Two patients (#5 and #8) were diagnosed as MDS-single lineage dysplasia (SLD), and their cytopenia has not become worse without any treatment for about 4 years. Other three patients diagnosed as MDS-multilineage dysplasia (MLD) showed various clinical courses. Patient #1 was treated with azacitidine and maintains complete hematological improvement after 34 courses of the treatment. Patient #2 was treated with erythropoietin stimulating agent and azacytidine but developed to AML 3 years after initial diagnosis but leukemic blasts has del(20), not +8. Patient #9 developed advanced pancytopenia in 3 months from initial diagnosis and received red blood cell transfusion regularly. Gene mutations were detected in five out of nine patients with CT8M. In three patients, gene mutations were detected at high (20 to 50%) variant allele frequency (VAF). Patient #2 who was analyzed at the AML phase had gene mutations of SRSF2, SF3B1, STAG2 and NOTCH1. BM sample from patient #9 showed ASXL1 mutation and two TET2 mutations. Patient #4 who did not show apparent myelodysplasia had a high VAF ASXL1 mutation, indicating clonal idiopathic cytopenias of undetermined significance. Two patients had low (2 to 5%) VAF mutations; patient #1 was analyzed after 34 courses of azacitidine had a TET2 mutation; patient #5 with MDS-SLD had a WT1 mutation and two PHF6 mutations. Four patients (#3, #6, #7 and #8) did not have any mutations. The clinical and genetic features showed that CT8M with cytopenia without MDS-related mutations were under 56 years old and did not develop to MDS or stayed at MDS-SLD. Patients with low VAF mutations were also stable. By contrast, patients with advanced diseases gained multiple MDS-related gene mutations with high VAF. One patient without dysplasia had a high VAF ASXL1 mutation. All the patients with gene mutations were age of 56 to 84 years. Conclusion Our results indicated that isolated trisomy 8 may cause cytopenia, but the cytopenia is not exacerbated without MDS-related driver gene mutations. CT8M patients with cytopenia might get gene mutations gradually with age, which leads to MDS or AML. Disclosures No relevant conflicts of interest to declare.

scholarly journals Trisomy 8 in Acute Myeloblastic Leukemia and Sideroachrestic Anemia

Blood ◽  
1974 ◽  
Vol 43 (4) ◽  
pp. 557-563 ◽  
Author(s):  
J. Jonasson ◽  
G. Gahrton ◽  
J. Lindsten ◽  
C. Simonsson-Lindemalm ◽  
L. Zech
Keyword(s):  
Bone Marrow ◽  
Chromosome Number ◽  
Peripheral Blood ◽  
Clonal Evolution ◽  
Extra Chromosome ◽  
Cytotoxic Drugs ◽  
Acute Myeloblastic Leukemia ◽  
Trisomy 8 ◽  
Reciprocal Translocations

Abstract An extra chromosome number 8 was found in the bone marrow of one patient with acute myeloblastic leukemia and one with sideroachrestic anemia. The extra chromosome was not found in the peripheral blood of any of the patients. In remission after treatment with cytotoxic drugs, the patient with acute myeloblastic leukemia had normal 46 XX cells in the bone marrow. In relapse, the same patient demonstrated two reciprocal translocations in addition to trisomy 8. This was interpreted as evidence for successive steps of clonal evolution from a single ancestor cell.

Partial trisomy 8 (8q24) and the trisomy-8 syndrome

1974 ◽  
Vol 23 (4) ◽  
pp. 297-303 ◽  
Author(s):  
Otto S�nchez ◽  
Jorge J. Yunis
Keyword(s):  
Partial Trisomy ◽  
Trisomy 8

Optic Disc Coloboma and Localized Chorioretinal Defects in Constitutional Partial Trisomy 8 Mosaicism

2006 ◽  
Vol 27 (3) ◽  
pp. 103-105 ◽  
Author(s):  
Mehryar Taban ◽  
Andreas Marcotty ◽  
Elias I. Traboulsi
Keyword(s):  
Optic Disc ◽  
Partial Trisomy ◽  
Trisomy 8 ◽  
Optic Disc Coloboma

Striking Facial Dysmorphisms and Restricted Thymic Development in a Fetus with a 6-Megabase Deletion of Chromosome 14q

2005 ◽  
Vol 8 (4) ◽  
pp. 497-503 ◽  
Author(s):  
J. M. De Pater ◽  
P. G. J. Nikkels ◽  
M. Poot ◽  
M. J. Eleveld ◽  
R. H. Stigter ◽  
...  
Keyword(s):  
Distal Part ◽  
Chorionic Villus ◽  
Clinical Manifestations ◽  
Horseshoe Kidney ◽  
Partial Trisomy ◽  
Chromosome Analysis ◽  
Chorionic Villus Sampling ◽  
Ultrasound Screening ◽  
Partial Monosomy ◽  
Thymic Development

During routine ultrasound screening at 12 weeks 5 days of gestation, a nuchal translucency of 7 mm, an omphalocele, and fetal hydrops were found and prompted chorionic villus sampling at 13 weeks 2 days. Chromosome analysis showed an unbalanced karyotype with an abnormal chromosome 14. The mother was a carrier of a translocation karyotype 46,XX,t(13;14) (q34;q32.2). In the fetus this gave rise to a partial trisomy 13q and partial monosomy 14q (fetal karyotype: 46,XX,der[14]t[13;14][q34;q32.2]). By Array-CGH on DNA extracted from a postmortem skin culture, a duplication of approximately 1.7 Mbp of the distal part of chromosome 13q34 and a deletion of approximately 6.0 Mbp of the distal part of chromosome 14q32.2 was demonstrated. Postmortem findings after termination of pregnancy at 14 weeks 6 days included, among others, a severe hypoplasia of the median part of the maxilla, no recognizable nose, a broad median palatoschisis, nonlobulated lungs, a horseshoe kidney with multicystic dysplasia, and decreased development of cortical cellularity in the thymus. These clinical manifestations and autopsy findings of the fetus are compared with those of previously published cases and the possible involvement in this pathology of the YY1 and JAG2 transcription factors and the BCL11b and SIVA-1 regulators of thymic development is discussed.

scholarly journals Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8

2018 ◽  
Vol 38 (1) ◽  
pp. 63-66 ◽  
Author(s):  
Mariana T. De Souza ◽  
Gabriela Vera-Lozada ◽  
Moneeb Othman ◽  
Teresinha J. Marques-Salles ◽  
Luciana W. Pinto ◽  
...  
Keyword(s):  
Burkitt Lymphoma ◽  
Ataxia Telangiectasia ◽  
Partial Trisomy ◽  
Trisomy 8 ◽  
Cytogenetic Studies

Mosaic ring chromosome 8: Clinical and array-CGH findings in partial trisomy 8

2008 ◽  
Vol 146A (21) ◽  
pp. 2837-2841 ◽  
Author(s):  
Isabel Filges ◽  
Benno Röthlisberger ◽  
Friedel Wenzel ◽  
Karl Heinimann ◽  
Andreas R. Huber ◽  
...  
Keyword(s):  
Array Cgh ◽  
Ring Chromosome ◽  
Partial Trisomy ◽  
Chromosome 8 ◽  
Trisomy 8

Complete and partial trisomy 8

2008 ◽  
Vol 18 (4) ◽  
pp. 314-314
Author(s):  
A. Schinzel
Keyword(s):  
Partial Trisomy ◽  
Trisomy 8
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