A child patient was found to have an autosomal recessive disease. Mutation testing indicated homozygosity for the pathogenic mutation. Mutation testing in father found him heterozygous while the mother is wild type for both alleles. How could this happen? Child have inherited a chromosome from his paternal grandfather and the other homolog from his paternal grandmother Child might be trisomic then trisomic rescue happened and resulted in paternal isodisomy Child miaht be trisomic then trisomic

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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A child patient was found to have an
autosomal recessive disease. Mutation
testing indicated homozygosity for the
pathogenic mutation. Mutation testing in
father found him heterozygous while the
mother is wild type for both alleles. How
could this happen?
Child have inherited a chromosome
from his paternal grandfather and the
other homolog from his paternal
grandmother
Child might be trisomic then trisomic
rescue happened and resulted in
paternal isodisomy
Child might be trisomic then trisomic
rescue happened and resulted in
maternal heterodisomy
Child might be trisomic then trisomic
rescue happened and resulted in
maternal isodisomy
Child might be trisomic then trisomic
rescue happened and resulted in
paternal heterodisomy
Transcribed Image Text:A child patient was found to have an autosomal recessive disease. Mutation testing indicated homozygosity for the pathogenic mutation. Mutation testing in father found him heterozygous while the mother is wild type for both alleles. How could this happen? Child have inherited a chromosome from his paternal grandfather and the other homolog from his paternal grandmother Child might be trisomic then trisomic rescue happened and resulted in paternal isodisomy Child might be trisomic then trisomic rescue happened and resulted in maternal heterodisomy Child might be trisomic then trisomic rescue happened and resulted in maternal isodisomy Child might be trisomic then trisomic rescue happened and resulted in paternal heterodisomy
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