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A. Translocation of the long arms of chromosomes 14 and 21 at the centromere. Loss of the short arms is not clinically significant, and these individuals are clinically normal, although they are at risk for producing offspring with unbalanced translocations. B. Karyotype of translocation of chromosome 21 into 14, resulting in Down syndrome.
A. Translocation of the long arms of chromosomes 14 and 21 at the centromere. Loss of the short arms is not clinically significant, and th...
Trisomy 21 in the karyotype of a child with Down syndrome. All other chromosomes are normal.
FIGURE 30.26. Fluorescence in situ hybridization in A employed a chromosome 5 painting probe on a cell from a patient with severe mental retardation and self-abusive behavior. On G-banded analysis, an abnormal dark staining band was seen in the p arm of chromosome 1. Using a 24-chromosome painting probe device (Cytocell, Ltd., Oxfordshire, UK), the abnormal segment was identified to be derived from chromosome 5 and confirmed using another chromosome 5 painting probe (Vysis, Inc, Downer's Gr...
FIGURE 30.26. Fluorescence in situ hybridization in A employed a chromosome 5 painting probe on a cell from a patient with severe mental re...