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Common Heteromorphisms in Human Chromosomes (Paperback)
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Common Heteromorphisms in Human Chromosomes (Paperback)
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Heteromorphisms are microscopically visible variant regions on
chromosomes and are transmitted as Mendelian traits. Studies of
heteromorphic variants allow determination of parental origin,
paternity testing, maternal contamination in prenatal samples or
tracing the chromosome to a parent in numerical or structural
chromosomal abnormalities. Genetic counseling is important to
interpret these common variants in context to patient history as
they may have no consequences to mild to moderate consequences.
This work presents the study and clinical correlation of common
heteromorphic variations in 6166 individuals with bad obstetric
history, developmental delay, fetal studies (fetal cells in
amniotic fluid or product of conception) with appropriate controls.
A review of published literature on the subject is also included.
This work was also presented by the author as a doctoral
dissertation (PhD in Life sciences) at Mumbai University India in
2012
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