Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Congenital chromosomal disease

Known as: Abnormalities, Chromosomal, Chromosome Abnormality Disorder, Disorder, Chromosomal 
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome… Expand
National Institutes of Health

Related topics

Related topics

50 relations

Narrower (41)

15q24 Microdeletion16p11.2 Deletion Syndrome22q13.3 Deletion Syndrome47, XYY syndrome
Expand
Autosome AbnormalitiesChromosome AberrationsCytogeneticsIn Blood
Expand

Broader (1)

Hereditary Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Venetoclax–Rituximab in Relapsed or Refractory Chronic Lymphocytic Leukemia
BACKGROUND Venetoclax inhibits BCL2, an antiapoptotic protein that is pathologically overexpressed and that is central to the… Expand
  • figure 1
  • figure 2
  • figure 3
  • table 1
  • figure 4
Is this relevant?
Review
2017
Review
2017
Recurrent pregnancy loss: current perspectives
Recurrent pregnancy loss is an important reproductive health issue, affecting 2%-5% of couples. Common established causes include… Expand
  • table 1
  • table 2
Is this relevant?
Review
2017
Review
2017
Forensic use of Y-chromosome DNA: a general overview
The male-specific part of the human Y chromosome is widely used in forensic DNA analysis, particularly in cases where standard… Expand
  • table 1
  • table 2
Is this relevant?
Review
2017
Review
2017
Landscape of X chromosome inactivation across human tissues
X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes in female mammalian cells to balance… Expand
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
Review
2017
Review
2017
Sex Hormones and Sex Chromosomes Cause Sex Differences in the Development of Cardiovascular Diseases
This review summarizes recent evidence concerning hormonal and sex chromosome effects in obesity, atherosclerosis, aneurysms… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Review
2017
Review
2017
The Role of Aneuploidy in Cancer Evolution.
Chromosomal aberrations during cell division represent one of the first recognized features of human cancer cells, and modern… Expand
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
Highly Cited
2010
Highly Cited
2010
GENOMIC ABERRATIONS AND SURVIVAL IN CHRONIC LYMPHOCYTIC LEUKEMIA
A BSTRACT Background Fluorescence in situ hybridization has improved the detection of genomic aberrations in chronic lymphocytic… Expand
  • table 3
  • table 4
  • figure 1
  • table 4
  • figure 2
Is this relevant?
Highly Cited
2010
Highly Cited
2010
Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in…
Diagnostic karyotype provides the framework for risk-stratification schemes in acute myeloid leukemia (AML); however, the… Expand
  • table 1
  • table 2
  • table 2
  • figure 1
  • table 3
Is this relevant?
Highly Cited
2002
Highly Cited
2002
Analysis of FLT3-activating mutations in 979 patients with acute myelogenous leukemia: association with FAB subtypes and identification of subgroups with poor prognosis.
Constitutive activation of the FLT3 receptor tyrosine kinase, either by internal tandem duplication (ITD) of the juxtamembrane… Expand
  • table 1
  • figure 1
  • table 2
  • table 3
  • figure 2
Is this relevant?
Highly Cited
1998
Highly Cited
1998
The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children's Leukaemia Working Parties.
Cytogenetics is considered one of the most valuable prognostic determinants in acute myeloid leukemia (AML). However, many… Expand
Is this relevant?
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE