Chromosome abnormalities affect approximately one in a hundred individuals, presenting significant challenges for medical geneticists and genetic counselors. These professionals play a crucial role in not only identifying chromosomal abnormalities but also helping families comprehend the complexities surrounding chromosome disorders, including their causes and recurrence risks.
About the Book
Chromosome Abnormalities and Genetic Counseling is the definitive guide to navigating the intricate landscape of chromosome disorders and addressing the clinical questions raised by affected families. This comprehensive resource incorporates the latest advances in molecular technologies and prenatal diagnosis, while also revisiting classical concepts of chromosomal pathology. Key features include:
- In-depth discussions on well-known trisomies, deletions, and duplication syndromes.
- Insights into how chromosome abnormalities may arise de novo or in the context of parental chromosome rearrangements.
- Three entirely new chapters focusing on copy number variants, chromosome abnormalities linked to selected phenotypes, and ethical and counseling challenges.
Updated and Comprehensive
The 6th edition of Chromosome Abnormalities and Genetic Counseling has been thoroughly updated, maintaining the warmth and engaging voice that have made it essential reading for professionals in the field of medical genetics.
Authors:
David J. Amor (Author)
Edition:
6th
Publication Date:
November 18, 2025
From the book:
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