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Pallister-Hall syndrome associated with an unbalanced chromosome translocation
J A Kuller1, V A Cox, S A Schonberg
1Department of Pediatrics, University of California, San Francisco.
American Journal of Medical Genetics
|June 1, 1992
Abstract:
We report 3 cases of Pallister-Hall syndrome involving hypothalamic hamartoblastoma, hypopituitarism, cranial, and limb abnormalities. The first 2 cases represent the first apparent sibs reported with this syndrome. Patient 1 represents the first known patient with this syndrome with an abnormal karyotype.