COMPLEX CONGENITAL HEART MALFORMATIONS IN MOSAIC TETRASOMY 8P - CASE-REPORT AND REVIEW OF THE LITERATURE

We describe a 5-month-old boy with complex congenital heart defects (d TGA, DORV, VSD, ASD, and PDA), minor facial and ear anomalies, deep pa lmar creases, multiple vertebral anomalies, agenesis of the corpus cal losum, and mosaic tetrasomy 8p (47,XY,+i(8) (p10)[88%]/46,XY[12%] in b lood with normal chromosomes in cultured skin fibroblasts. This infant represents the eleventh reported case of mosaic tetrasomy 8p since it s first description by Kristofferson et al. [1988: Clin Genet 34:201-2 03]. The pattern of heart malformations and discordance of blood and f ibroblast karyotypes make our case unique. Our report and review sugge st that an important distinction between mosaic tetrasomy 8p and other chromosome 8 aneuploidies involves the increased incidence and comple xity of congenital heart malformations. (C) 1997 Wiley-Liss, Inc.