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Updated: Aug 4, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Partial trisomy 8q and partial monosomy 18p: a case report
S Puvabanditsin1, E Garrow, F A Rabi
1Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, NJ, USA. surasak1@aol.com <surasak1@aol.com>
Abstract:
We report clinical observations and cytogenetic studies of an inherited partial trisomy 8q and partial monosomy 18p. A full trisomy 8 syndrome (Warkany syndrome) is a clinically recognized syndrome. Partial trisomy 8q has been reported sporadically in the literature with variable phenotypes. Partial monosomy 18p, deletion of the short arm of chromosome 18, is also a well-recognized syndrome. This is the first report to the best of our knowledge of partial trisomy for distal 8q and partial monosomy for distal 18p occurring together in a patient.
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