Article

Genomic complexity and complex chromosomal rearrangements in genetic diagnosis: example from two emblematic cases on chromosome 7

2023-07-14

Abstract excerpt

<title>Abstract</title> <p><bold>Background.</bold> Complex chromosomal rearrangements are rare events compatible with survival, consisting in imbalance and/or position effect, which contribute to a range of clinical pictures. The investigation and diagnosis of these cases is often difficult and knowing the methodology followed in similar cases can be very useful for others. The interpretation of the results does...

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Literature Corpus work: ab9c1869-5659-54dd-903f-39aa5271c283
DOI: 10.21203/rs.3.rs-3000004/v1

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