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1. In a human genetic study, a family with five phenotypically normal children was investigated.
Two children were "homozygous" for a Robertsonian translocation between chromosomes 19
and 20 (they contained two identical copies of the fused chromosome). They have only 44
chromosomes but a complete genetic complement. Three of the children were "heterozygous" for
the translocation and contained 45 chromosomes, with one translocated chromosome plus a
normal copy of both chromosomes 19 and 20. Two other pregnancies resulted in stillbirths. It
was later discovered that the parents were first cousins. Based on this information, determine the
chromosome compositions of the parents. What led to the stillbirths? Why was the discovery that
the parents were first cousins a key piece of information in understanding the genetics of this
family?

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1. In a human genetic study, a family with five phenotypically normal.pdf

  • 1. 1. In a human genetic study, a family with five phenotypically normal children was investigated. Two children were "homozygous" for a Robertsonian translocation between chromosomes 19 and 20 (they contained two identical copies of the fused chromosome). They have only 44 chromosomes but a complete genetic complement. Three of the children were "heterozygous" for the translocation and contained 45 chromosomes, with one translocated chromosome plus a normal copy of both chromosomes 19 and 20. Two other pregnancies resulted in stillbirths. It was later discovered that the parents were first cousins. Based on this information, determine the chromosome compositions of the parents. What led to the stillbirths? Why was the discovery that the parents were first cousins a key piece of information in understanding the genetics of this family?