In a human genetic study, a family with five phenotypicallynormal children was investigated. Two children were “homozygous”for a Robertsonian translocation between chromosomes19 and 20 (they contained two identical copies of the fusedchromosome). They have only 44 chromosomes but a completegenetic complement. Three of the children were “heterozygous”for the translocation and contained 45 chromosomes,with one translocated chromosome plus a normal copy of bothchromosomes 19 and 20. Two other pregnancies resulted instillbirths. It was later discovered that the parents were firstcousins. Based on this information, determine the chromosomecompositions of the parents. What led to the stillbirths? Whywas the discovery that the parents were first cousins a key pieceof information in understanding the genetics of this family?

Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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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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