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Frequent Chromosome Aberrations Revealed by Molecular Cytogenetic Studies in Patients with Aniridia

โœ Scribed by John A. Crolla; Veronica van Heyningen


Book ID
117854059
Publisher
American Society of Human Genetics
Year
2002
Tongue
English
Weight
829 KB
Volume
71
Category
Article
ISSN
0002-9297

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Here we describe the first reported case of a patient with a familial paracentric inversion in the long arm of the Y chromosome and ambiguous genitalia. FISH analyses with Y chromosome YACs demonstrated that the inversion breakpoints of the patients and the father's Ys appear to be the same and lie