scholarly journals Decrease of spermatozoa with an unbalanced chromosome content after cell sorting in men carrying a structural chromosomal abnormality

Andrology ◽  
2019 ◽  
Vol 8 (1) ◽  
pp. 181-190
Author(s):  
S. El Fekih ◽  
C. Tous ◽  
N. Gueganic ◽  
F. Brugnon ◽  
H. Ben Ali ◽  
...  
Keyword(s):  
Cell Sorting ◽  
Chromosomal Abnormality ◽  
Structural Chromosomal Abnormality

scholarly journals Motives and considerations regarding PGT in couples carrying a structural chromosomal abnormality: a qualitative exploration

2020 ◽  
Vol 37 (7) ◽  
pp. 1719-1727
Author(s):  
G. De Krom ◽  
Y. Severijns ◽  
W. L. Vlieg ◽  
Y. H. J. M. Arens ◽  
R. J. T. Van Golde ◽  
...  
Keyword(s):  
Chromosomal Abnormality ◽  
Structural Chromosomal Abnormality ◽  
Qualitative Exploration

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.

Structural chromosomal abnormality of 1q in acute leukemia with Sweet syndrome

2002 ◽  
Vol 139 (1) ◽  
pp. 84-85 ◽  
Author(s):  
Milica Colovic ◽  
Gradimir Jankovic ◽  
Nada Suvajdzic ◽  
Milos Nikolic
Keyword(s):  
Acute Leukemia ◽  
Chromosomal Abnormality ◽  
Sweet Syndrome ◽  
Structural Chromosomal Abnormality

scholarly journals Recurrent spontaneous abortion related to balanced translocation of chromosomes: two case reports

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Xue Wan ◽  
Linyan Li ◽  
Zulin Liu ◽  
Zhenhai Fan ◽  
Limei Yu
Keyword(s):  
Spontaneous Abortion ◽  
Chromosomal Abnormality ◽  
Chromosomal Abnormalities ◽  
Case Reports ◽  
Recurrent Spontaneous Abortion ◽  
Spontaneous Abortions ◽  
Balanced Translocation ◽  
Case Presentation ◽  
Structural Chromosomal Abnormality ◽  
Balanced Translocations

Abstract Background Recurrent spontaneous abortion (RSA) is often idiopathic, but structural chromosomal abnormality is an important nosogenesis. Balanced translocations or inversions can lead to unbalanced gametes depending on the specific recombination and segregation patterns during meiosis. An unbalanced karyotype in the conceptus of a couple when one partner has a structural chromosomal abnormality may result in failure to implant, miscarriage, or ongoing pregnancy of a fetus with an unbalanced karyotype. Case presentation We report two rare Han cases of RSA associated with balanced translocation of chromosomes. In case 1, a women who had had four spontaneous abortions, the karyotype was 46, XX, t (4;7) (q31;q22). In case 2, a women who had two spontaneous abortions and one stillborn fetus, the karyotype was 46, XX, t (3;15) (q12;p11.2), inv (5) (P13q13). The abnormal karyotype was not found in other chromosomes. Conclusions It is very important that couples with more than two miscarriages be provided with chromosomal analysis. Referring couples for karyotyping will rule out or confirm possible hereditary etiology and the source of chromosomal abnormalities in recurrent miscarriages.

Intelligent Image-Based Cell Sorting And Beyond

2018 ◽  
Author(s):  
Keisuke Goda ◽  
Nao Nitta
Keyword(s):  
Cell Sorting
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