Aberrations, Chromosome
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  Aberrations, Chromosome



Aberrations, Chromosome

   Abnormal number or structure of chromosomes. Many chromosome aberrations, but not all, are the cause of CHROMOSOME DISORDERS.

RELATED TERMS
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Abnormal
Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer).

Chromosomes
Filaments of genetic material in every cell nucleus that are made up of genes and that transmit genetic information from one generation of cells to the next.

Chromosome
A structural unit within a eukaryotic nucleus that carries genes. A chromosome consists of a long, continuous strand of DNA and associated proteins.



SIMILAR TERMS
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Aberdeen doctors
All doctors near Aberdeen, Great Britain. Doctors who can assist a patient in Aberdeen.

Aberdeen Hospital
The Aberdeen Hospital is a hospital in Iqaluit, Nunavut, Canada.

Aberrant Tissue
A mass of histologically normal tissue present in an abnormal location.

Aberration
(1) A deviation or irregularity. For example, a chromosome aberration is a deviation from the normal chromosome number or the normal chromosome structure. In this sense, aberration is also synonymous with deflection, departure, divergence, diversion, turning. (2) A mental aberration is a significant deviation from normal mental activity. In this sense, aberration is synonymous with mental derangement, mental illness, psychopathy.

Aberrations, Sex Chromosome
Abnormal number or structure of the SEX CHROMOSOMES. Many sex chromosome aberrations, but not all, are the cause of SEX CHROMOSOME DISORDERS.



PREVIOUS AND NEXT TERMS
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Abilities, Urine Concentrating
The ability of the kidney to excrete in the urine high concentrations of solutes from the blood plasma.

Abies
A plant genus in the family PINACEAE, order Pinales, class Pinopsida, division Coniferophyta.

ABH Blood Groups
The major human blood type system which depends on the presence or absence of two antigens A and B. Type O occurs when neither A nor B is present and AB when both are present. A and B are genetic factors that determine the presence of enzymes for the synthesis of certain glycoproteins mainly in the red cell membrane.

Abetalipoproteinemia
A disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of APOLIPOPROTEINS B and apoB-containing lipoproteins in plasma. Microsomal triglyceride transfer protein is deficient or absent in enterocytes. Clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia, and steatorrhea. Intellectual abilities may also be impaired. (Menkes, Textbook of Child Neurology, 5th ed, p118; Curr Opin Lipidol 1994 Apr;5(2):81-6)

Aberrations, Sex Chromosome
Abnormal number or structure of the SEX CHROMOSOMES. Many sex chromosome aberrations, but not all, are the cause of SEX CHROMOSOME DISORDERS.

Aberrations, Chromosome

Ablation, Percutaneous Catheter
Removal of tissue with electrical current delivered via electrodes positioned at the distal end of a catheter. Energy sources are commonly direct current (DC-shock) or alternating current at radiofrequencies (usually 750 kHz). The technique is used most often to ablate the AV junction and/or accessory pathways in order to interrupt AV conduction and produce AV block in the treatment of various tachyarrhythmias.

Abl, Proto-Oncogene Proteins
Non-receptor tyrosine kinases encoded by the c-abl gene. They are distributed in both the cytoplasm and the nucleus. c-Abl plays a role in normal hematopoiesis especially of the myeloid lineage. Oncogenic transformation of c-abl arises when specific N-terminal amino acids are deleted, releasing the kinase from negative regulation.

Abl Oncogenes
Retrovirus-associated DNA sequences (abl) originally isolated from the Abelson murine leukemia virus (Ab-MuLV). The proto-oncogene abl (c-abl) codes for a protein that is a member of the tyrosine kinase family. The human c-abl gene is located at 9q34.1 on the long arm of chromosome 9. It is activated by translocation to bcr on chromosome 22 in chronic myelogenous leukemia.

Abl Oncogene Proteins
Transforming proteins encoded by the abl oncogenes. Oncogenic transformation of c-abl to v-abl occurs by insertional activation that results in deletions of specific N-terminal amino acids.

Abnormal Reflexes
An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.

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