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Nature Genetics  29, 243 - 244 (2001)
doi:10.1038/ng1101-243

The fragility of fertility

Pauline Yen

Department of Pediatrics, Harbor-UCLA Research & Education Institute, Torrance, California 90502, USA. pyen@rei.edu

Among apparently healthy men who nonetheless produce few or no sperm, about ten percent have microdeletions on their Y chromosome. Most of these de novo mutations occur in the AZFc region on the long arm of the chromosome. The high frequency of deletion is explained by the extraordinary structure of the region, which consists almost entirely of very long repeat units.

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RESEARCH
An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y
Nature Genetics Letters (01 Dec 1999)
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
Nature Genetics Article (01 Nov 2001)

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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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