Retinoblastoma, deletion 13q14, and esterase D: Application of gene dosage effect to prenatal diagnosis

Esterase D (ESD) gene dosage studies were performed on amniotic cells from a fetus at risk for del 13q14. The mother was a balanced carrier of an insertion in chromosome #20: 46,XX,ins(20;13)(p12;q1307q14.3). She had already given birth to a monosomic child with retinoblastoma (Rb) and to a phenotyp...

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