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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
Autosome AbnormalitiesChromosome AberrationsCytogeneticsIn Blood

Broader (1)

Hereditary Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2003
Highly Cited
2003
In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene.
To the Editor: “Parental imprinting” refers to an epigenetic marking of genes that results in monoallelic expression. This… 
Highly Cited
1999
Highly Cited
1999
Subtle chromosomal rearrangements in children with unexplained mental retardation
Highly Cited
1998
Highly Cited
1998
Histone macroH2A1 is concentrated in the inactive X chromosome of female mammals
In female mammals one of the X chromosomes is rendered almost completely transcriptionally inactive, to equalize expression of X… 
Highly Cited
1996
Highly Cited
1996
Catalog of Chromosome Aberrations in Cancer
We present here because it will be so easy for you to access the internet service. As in this new era, much technology is… 
Highly Cited
1996
Highly Cited
1996
The CBFβ Subunit Is Essential for CBFα2 (AML1) Function In Vivo
Highly Cited
1995
Highly Cited
1995
Genetic changes in primary and recurrent prostate cancer by comparative genomic hybridization.
Genetic changes leading to the development of prostate cancer and factors that underlie the clinical progression of the disease… 
Highly Cited
1993
Highly Cited
1993
Interleukin-13 is a new human lymphokine regulating inflammatory and immune responses.
The discovery of new cytokines normally relies on a prior knowledge of at least one of their biological effects, which is used as… 
Highly Cited
1992
Highly Cited
1992
Transmission of chromosomal instability after plutonium α-particle irradiation
WHEN investigating the biological effects of ionizing radiation on the haemopoietic system, a confounding problem lies in… 
Highly Cited
1976
Highly Cited
1976
The production of micronuclei from chromosome aberrations in irradiated cultures of human lymphocytes.
Highly Cited
1975
Highly Cited
1975
Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions
Epidemiologic studies, retrospective and prospective, were done on 1500 abortions collected from 1966–1972. No secular or… 
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