scholarly journals Numerical Chromosomal Abnormality

2020 ◽  
Author(s):  
Keyword(s):  
Chromosomal Abnormality ◽  
Numerical Chromosomal Abnormality

scholarly journals Analysis of Genomic Copy Number Variation in Miscarriages During Early and Middle Pregnancy

2021 ◽  
Vol 12 ◽  
Author(s):  
Heming Wu ◽  
Qingyan Huang ◽  
Xia Zhang ◽  
Zhikang Yu ◽  
Zhixiong Zhong
Keyword(s):  
Prenatal Diagnosis ◽  
Old Age ◽  
Chromosomal Abnormality ◽  
Copy Number ◽  
Chromosomal Abnormalities ◽  
Copy Number Variations ◽  
Variants Of Unknown Significance ◽  
Number Variation ◽  
Structural Chromosomal Abnormality ◽  
Numerical Chromosomal Abnormality

The purpose of this study was to explore the copy number variations (CNVs) associated with miscarriage during early and middle pregnancy and provide useful genetic guidance for pregnancy and prenatal diagnosis. A total of 505 fetal specimens were collected and CNV sequencing (CNV-seq) analysis was performed to determine the types and clinical significance of CNVs, and relevant medical records were collected. The chromosomal abnormality rate was 54.3% (274/505), among which the numerical chromosomal abnormality rate was 40.0% (202/505) and structural chromosomal abnormality rate was 14.3% (72/505). Chromosomal monosomy mainly occurred on sex chromosomes, and chromosomal trisomy mainly occurred on chromosomes 16, 22, 21, 15, 13, and 9. The incidence of numerical chromosomal abnormalities in ≥35 year-old age pregnant women was significantly higher than <35 year-old age group. The highest incidence of pathogenic CNV (pCNV) was found in fetuses at ≤6 weeks of pregnancy (5.26%), and the incidence of variants of unknown significance (VOUS) CNVs decreased gradually with the increase of gestational age. The rate of chromosomal abnormalities of fetuses in early pregnancy (59.5%) was higher than that of fetuses in middle pregnancy (27.2%) (p < 0.001). There were 168 genes in VOUS + pCNV regions. 41 functions and 12 pathways (p < 0.05) were enriched of these genes by Gene Ontology (GO) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis. Some meaningful genetic etiology information such as genes and pathways has been obtained, it may provide useful genetic guidance for pregnancy and prenatal diagnosis.

Numerical chromosomal abnormality in gastric MALT lymphoma and diffuse large B-cell lymphoma

2002 ◽  
Vol 37 (9) ◽  
pp. 691-696 ◽  
Author(s):  
Ikuo Watanobe ◽  
Shigeru Takamori ◽  
Kuniaki Kojima ◽  
Masaki Fukasawa ◽  
Tomoe Beppu ◽  
...  
Keyword(s):  
B Cell ◽  
Malt Lymphoma ◽  
Chromosomal Abnormality ◽  
Cell Lymphoma ◽  
B Cell Lymphoma ◽  
Gastric Malt Lymphoma ◽  
Large B Cell Lymphoma ◽  
Numerical Chromosomal Abnormality ◽  
Large B Cell

Trisomy 19 as the sole chromosomal abnormality in proliferative chronic myelomonocytic leukemia

2006 ◽  
Vol 30 (8) ◽  
pp. 1043-1047 ◽  
Author(s):  
M. Daskalakis ◽  
N. Mauritzson ◽  
B. Johansson ◽  
K. Bouabdallah ◽  
F. Onida ◽  
...  
Keyword(s):  
Chromosomal Abnormality ◽  
Chronic Myelomonocytic Leukemia ◽  
Myelomonocytic Leukemia

Two myelodysplastic syndrome cases with the inv(ll)(pl5q23) as a sole chromosomal abnormality

1992 ◽  
Vol 81 (4) ◽  
pp. 512-515 ◽  
Author(s):  
Kinuko Mitani ◽  
Yuko Sato ◽  
Yasuhide Hayashi ◽  
Yasusada Miura ◽  
Kiyoshi Miyagawa ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Chromosomal Abnormality

Acquired idiopathic sideroblastic anemia: A new chromosomal abnormality

1983 ◽  
Vol 9 (4) ◽  
pp. 341-345 ◽  
Author(s):  
Philip Schulman ◽  
Nataline Kardon ◽  
Robert Weiner ◽  
Vincent Vinciguerra ◽  
Daniel R. Budman ◽  
...  
Keyword(s):  
Chromosomal Abnormality ◽  
Sideroblastic Anemia

Deletion of chromosome 15 represents a rare but recurrent chromosomal abnormality in myeloid malignancies

2001 ◽  
Vol 37 ◽  
pp. S115
Author(s):  
J. Dierlamm ◽  
L. Michaux ◽  
G. Schilling ◽  
D. Seeger ◽  
P. Leberecht ◽  
...  
Keyword(s):  
Chromosomal Abnormality ◽  
Chromosome 15 ◽  
Myeloid Malignancies

scholarly journals Nuclear organisation in totipotent human nuclei and its relationship to chromosomal abnormality

2008 ◽  
Vol 121 (5) ◽  
pp. 655-663 ◽  
Author(s):  
K. A. Finch ◽  
G. Fonseka ◽  
D. Ioannou ◽  
N. Hickson ◽  
Z. Barclay ◽  
...  
Keyword(s):  
Chromosomal Abnormality ◽  
Nuclear Organisation
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