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Complex congenital heart malformations in mosaic tetrasomy 8p: Case report and review of the literature

✍ Scribed by Napoleone, R. M.; Varela, M.; Andersson, H. C.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 24 KB
Volume: 73
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971219)73:3<330::aid-ajmg19>3.0.co;2-k

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✦ Synopsis

We describe a 5-month-old boy with complex congenital heart defects (dTGA, DORV, VSD, ASD, and PDA), minor facial and ear anomalies, deep palmar creases, multiple vertebral anomalies, agenesis of the corpus c a l l o s u m , a n d m o s a i c t e t r a s o m y 8 p (47,XY,+i(8)(p10)[88%]/46,XY[12%] in blood with normal chromosomes in cultured skin fibroblasts. This infant represents the eleventh reported case of mosaic tetrasomy 8p since its first description by Kristofferson et al. [1988: Clin Genet 34:201-203]. The pattern of heart malformations and discordance of blood and fibroblast karyotypes make our case unique. Our report and review suggest that an important distinction between mosaic tetrasomy 8p and other chromosome 8 aneuploidies involves the increased incidence and complexity of congenital heart malformations. Am.

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