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Hum Mol Genet. 1992 Jul;1(4):221-7.

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.

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  • 1Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.


In this review we describe the various types of chromosomal abnormalities found in the distal short arm of the human X chromosome and the most common clinical features associated with each type, emphasizing the underlying molecular mechanisms. The study of these patients has significant implications for identifying the disease genes involved.

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