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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… (More)

Topic mentions per year

Topic mentions per year

1937-2018
010020030019372017

Related topics

Related topics

47 relations

Narrower (37)

15q24 Microdeletion16p11.2 Deletion Syndrome22q13.3 Deletion Syndrome47, XYY syndrome
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Chromosome AberrationsCytogeneticsIn BloodMedical Genetics specialty
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Broader (1)

Hereditary Diseases

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Congenital chromosomal disease
Cytogenetics
radiotherapeutic
Hereditary Diseases
Chromosome Aberrations
Down Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2009
Highly Cited
2009
Chromosome instability is common in human cleavage-stage embryos
Chromosome instability is a hallmark of tumorigenesis. This study establishes that chromosome instability is also common during… (More)
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Highly Cited
2004
Highly Cited
2004
Catalogue of Unbalanced Chromosome Aberrations in Man, 2nd Edition
 
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Highly Cited
2003
Highly Cited
2003
A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome.
BACKGROUND Idiopathic hypereosinophilic syndrome involves a prolonged state of eosinophilia associated with organ dysfunction. It… (More)
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Highly Cited
2003
Highly Cited
2003
Origin and timing of brain lesions in term infants with neonatal encephalopathy.
BACKGROUND The role of intrapartum asphyxia in neonatal encephalopathy and seizures in term infants is not clear, and antenatal… (More)
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Highly Cited
1996
Highly Cited
1996
Catalog of Chromosome Aberrations in Cancer
Mitelman's catalogue is the only comprehensive reference book of aberrant karyotypes in malignancy. The fifth edition provides us… (More)
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Highly Cited
1996
Highly Cited
1996
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
Holoprosencephaly (HPE) is a common developmental defect of the forebrain and frequently the midface in humans, with both genetic… (More)
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Highly Cited
1996
Highly Cited
1996
The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP96 and class I homeoprotein HOXA9
The t(7;11)(p15;p15) translocation is a recurrent chromosomal abnormality associated primarily with acute myeloid leukaemia (FAB… (More)
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Highly Cited
1989
Highly Cited
1989
Establishment and characterization of a unique human cell line that proliferates dependently on GM-CSF, IL-3, or erythropoietin.
We have established a novel cell line, designated as TF-1, from a patient with erythroleukemia, which showed complete growth… (More)
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Highly Cited
1985
Highly Cited
1985
Structural organization of the bcr gene and its role in the Ph' translocation.
The Philadelphia (Ph') chromosome, an abnormal chromosome 22 (ref. 1), is one of the best-known examples of a specific human… (More)
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Highly Cited
1973
Highly Cited
1973
Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining.
 
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