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%] i
โฆ LIBER โฆ
Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: Case report and review of literature
โ Scribed by Jo-Ann K. Brock; Sarah Dyack; Mark Ludman; Nadine Dumas; Michele Gaudet; Barbara Morash
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 179 KB
- Volume
- 158A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Complex congenital heart malformations i
โ
Napoleone, R. M.; Varela, M.; Andersson, H. C.
๐
Article
๐
1997
๐
John Wiley and Sons
๐
English
โ 24 KB
๐ 3 views
Case report of rec(7)dup(7q)inv(7)(p22q2
โ
Ishii, Fumiyo; Fujita, Hiroko; Nagai, Akira; Ogihara, Tohru; Kim, Han-Suk; Okamo
๐
Article
๐
1997
๐
John Wiley and Sons
๐
English
โ 48 KB
๐ 2 views
We report a rare case of duplication for 7q22 โ 7qter and deletion for 7p22 โ 7pter, resulting from a meiotic recombination of a paternal pericentric inversion, inv(7)(p22q22). The newborn boy had the 7q trisomy syndrome. In addition, the diagnosis of chondrodysplasia punctata was made from lumbar a