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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… 
National Institutes of Health

Related topics

Related topics

50 relations

Narrower (41)

15q24 Microdeletion16p11.2 Deletion Syndrome22q13.3 Deletion Syndrome47, XYY syndrome
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Autosome AbnormalitiesChromosome AberrationsCytogeneticsIn Blood
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Broader (1)

Hereditary Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2010
Review
2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
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… 
Review
2009
Review
2009
The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes.
Recently the World Health Organization (WHO), in collaboration with the European Association for Haematopathology and the Society… 
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… 
Highly Cited
2000
Highly Cited
2000
Genomic aberrations and survival in chronic lymphocytic leukemia.
BACKGROUND Fluorescence in situ hybridization has improved the detection of genomic aberrations in chronic lymphocytic leukemia… 
Highly Cited
1999
Highly Cited
1999
The World Health Organization classification of neoplastic diseases of the hematopoietic and lymphoid tissues. Report of the Clinical Advisory Committee meeting, Airlie House, Virginia, November…
INTRODUCTION Since 1995, the European Association of Pathologists (EAHP) and the Society for Hematopathology (SH) have been… 
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… 
Highly Cited
1996
Highly Cited
1996
Atm-Deficient Mice: A Paradigm of Ataxia Telangiectasia
Highly Cited
1991
Highly Cited
1991
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
X-chromosome inactivation results in the cis-limited dosage compensation of genes on one of the pair of X chromosomes in… 
Highly Cited
1983
Highly Cited
1983
Catalogue of chromosome aberrations in cancer.
  • F. Mitelman
  • Cytogenetics and cell genetics
  • 1983
  • Corpus ID: 46825302
Chromosome 1-22 Chromosome X Chromosome Y Homogeneously Staining Regions (HSR) Ring Chromosomes (R) Double Minute Chromosomes… 
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