Article
Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.
American journal of medical genetics. Part A - 1 Sept 2015
Zarate Yuri A, Bosanko Katherine A, Bhoj Elizabeth, Ganetzky Rebecca, Starr Lois J, Zackai Elaine H, Schaefer G Bradley
Abstract excerpt
The coexistence of two or more distinct genetic conditions is known to be a rare phenomenon. Full chromosome aneuploidies can be associated with a broad variety of cytogenetic abnormalities or single gene disorders resulting in phenotypic modifications that confuse the diagnostic process. We pres...
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