Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!

Genetics in Medicine - Tập 3 Số 1 - Trang 23-29 - 2001
Donna M. McDonald‐McGinn1, Melissa K. Tonnesen2, Ayala Laufer‐Cahana2, Brenda Finucane3, Deborah A. Driscoll4,2, Beverly S. Emanuel2, Elaine H. Zackai4,2
1Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA.
2Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia
3Department of Genetics, Elwyn Institute, Elwyn
4Department of Obstetrics and Gynecology, The Hospital of the University of Pennsylvania, Philadelphia

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Giannotti, 1994, Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype, Am J Med Genet, 30, 807

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McDonald-McGinn DM, Driscoll DA, Emanuel BS, Goldmuntz E, Clark BJ III, Solot C, Cohen M, Schultz P, LaRossa D, Randall P, Zackai EH. Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence. http://www.pediatrics.org/cgi/content/full/99/5/e9.

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McDonald-McGinn, 1996, The 22q11.2 deletion in African-American patients: an underdiagnosed population, Am J Hum Genet, 59, A20

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Genetics in Medicine

Tập 3 Số 1

23-29

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