A woman who sought genetic counseling is found to be heterozygous for a chromosomal rearrangement between the second and third chromosomes. Her chromosomes, compared to those in a normal karyotype, are diagrammed to the right.What kind of chromosomal aberration is shown?

A boy with Down syndrome (trisomy 21) has 46 chromosomes. His parents and his two older sisters have a normal phenotype, but each has 45 chromosomes.

What term best describes this kind of chromosome abnormality?

A boy with Down syndrome (trisomy 21) has 46 chromosomes. His parents and his two older sisters have a normal phenotype, but each has 45 chromosomes.

How many chromosomes do you expect to see in karyotypes of the parents?

A boy with Down syndrome (trisomy 21) has 46 chromosomes. His parents and his two older sisters have a normal phenotype, but each has 45 chromosomes.

Explain how this is possible.

A woman who sought genetic counseling is found to be heterozygous for a chromosomal rearrangement between the second and third chromosomes. Her chromosomes, compared to those in a normal karyotype, are diagrammed to the right. This woman is phenotypically normal. Does this surprise you? Why or why not? Under what circumstances might you expect a phenotypic effect of such a rearrangement?

A normal chromosome and its homolog carrying a paracentric inversion are shown here. The dot (·) represents the centromere.

Normal    ABC • DEFGHIJK

Inversion  abc • djihgfe

Diagram the alignment of chromosomes during prophase I.

From the following list, identify the types of chromosome changes you expect to show phenotypic consequences.

Paracentric inversion

Which of the following represents the chromosomal segregation into gametes after a reciprocal translocation caused by adjacent-1 segregation? N=Normal chromosome T = Tanslocated chromosome