CASE REPORTS
JOURNAL ARTICLE
REVIEW
Add like
Add dislike
Add to saved papers

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 (dTGA, DORV, VSD, ASD, and PDA), minor facial and ear anomalies, deep palmar creases, multiple vertebral anomalies, agenesis of the corpus callosum, and mosaic tetrasomy 8p (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.

Full text links

We have located links that may give you full text access.
Can't access the paper?
Try logging in through your university/institutional subscription. For a smoother one-click institutional access experience, please use our mobile app.

For the best experience, use the Read mobile app

Mobile app image

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

By using this service, you agree to our terms of use and privacy policy.

Your Privacy Choices Toggle icon

You can now claim free CME credits for this literature searchClaim now

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app