Chromosomal Aberrations

TABLE 6.2 Chromosomal Aberrations Chromosomal Abnormality 46,del(5p) 46,t(9;22) (q34al l) 46,dup(l7p12) Cri du chat syndrome CIVIL (chronic myelogenous leukemia) Charcot—Marie—Tooth syndrome Syndrome Phenotype Small head; round face; low—set ears; weak, catlike cry; low, broad nasal ridge; mental retardation Enlargement of liver and spleen; anemia; excessive, unrestrained growth of white cells (granulocytes) in the bone marrow Loss of sensation and muscle atrophy in the feet and legs that spreads to the arms and hands as the disease progresses