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This book presents chromosome-wise clinical cases following an evidence-based protocol, in addition to providing the scientific background on the mechanisms of human ring chromosome (RC) formation. Presence of RCs in a genome can lead to several rare genetic diseases....
This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic...
Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition...
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