Article
Mosaic trisomy 17: variable clinical and cytogenetic presentation.
American journal of medical genetics. Part A - 1 Oct 2011
Daber Robert, Chapman Kimberly A, Ruchelli Eduardo, Kasperski Stefanie, Mulchandani Surabhi, Thiel Brian D, Hakonarson Hakon, Zackai Elaine H, Conlin Laura K, Spinner Nancy B
Abstract excerpt
Mosaic trisomy 17 is rare with only 28 cases reported and the clinical presentation is highly variable. The diagnosis is most commonly made by prenatal karyotype and in most cases is followed by a normal postnatal karyotype on blood lymphocytes.We present two cases of mosaic trisomy 17 diagnosed prenatally,with follow up in multiple tissues at birth. In the first case,trisomy 17 was identified in all amniocytes,...
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