#chromosomal_aberration__chromosomalaberration__chromosomal_anomaly__chromosomalanomaly__chrosomal_abnormality__chrosomalabnormality__chromosonal_disorder__chromosonaldisorder any change in the normal structure or number of chromosomes; often results in physical or mental abnormalities
supertype: aberrance__aberrancy__aberration__deviance an aberrant state or condition
subtype: monosomy chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number
subtype: trisomy chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell
subtype: mongolism__mongolianism__Down's_syndrome__Down_syndrome__trisomy_21__trisomy21 a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation
subtype: sex-linked_disorder any disease or abnormality that is determined by the sex hormones; "hemophilia is determined by a gene defect on an X chromosome"
subtype: hemophilia__haemophilia__bleeder's_disease__bleeder'sdisease congenital tendency to uncontrolled bleeding; usually affects males and is transmitted from mother to son
subtype: hemophilia_A__haemophilia_A__classical_hemophilia__classicalhemophilia__classical_haemophilia__classicalhaemophilia hemophilia caused by a congenital deficiency of factor VIII; occurs almost exclusively in men
subtype: hemophilia_B__haemophilia_B__Christmas_disease a clotting disorder similar to hemophilia A but caused by a congenital deficiency of factor IX
subtype: von_Willebrand's_disease__angiohemophilia__vascularhemophilia a form of hemophilia discovered by Erik von Willebrand; a genetic disorder that is inherited as an autosomal recessive trait; characterized by a deficiency of the coagulation factor and by mucosal bleeding
subtype: Turner's_syndrome a chromosomal disorder in females who have only one X chromosome; marked by dwarfism and heart abnormalities and underdeveloped sex organs
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