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Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing

✍ Scribed by George McGillivray; Jill A Rosenfeld; R. J. McKinlay Gardner; Lynn H. Gillam

Book ID
112168446
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
110 KB
Volume
32
Category
Article
ISSN
0197-3851

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Single large mitochondrial DNA deletions (DeltamtDNA) are usually spontaneously occurring and cause a wide variety of symptoms, ranging from severe infantile multisystem disorders to adult onset progressive external ophthalmoplegia (PEO). There is always heteroplasmy with a mixture of normal and mut