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chrosomal abnormality

DEFINITIONS OF: chrosomal abnormality

1

n any change in the normal structure or number of chromosomes; often results in physical or mental abnormalities

Synonyms:
chromosomal aberration, chromosomal anomaly, chromosonal disorder
Types:
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monosomy
chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number
trisomy
chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell
sex-linked disorder
any disease or abnormality that is determined by the sex hormones
Down syndrome, Down's syndrome, mongolianism, mongolism, trisomy 21
a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation
bleeder's disease, haemophilia, hemophilia
congenital tendency to uncontrolled bleeding; usually affects males and is transmitted from mother to son
Turner's syndrome
a chromosomal disorder in females who have only one X chromosome; marked by dwarfism and heart abnormalities and underdeveloped sex organs
Type of:
aberrance, aberrancy, aberration, deviance
a state or condition markedly different from the norm
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