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Shprintzen-Goldberg Syndrome Results From Mutationsin Fibrillin-1, Not Monosomy 22q11

โœ Scribed by Eli Hatchwell


Book ID
117165678
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
121 KB
Volume
131
Category
Article
ISSN
1097-6833

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Trisomy 16pter to 16q12.1 and monosomy 2
โœ Xu, Jie; Chernos, Judy; Roland, Birgitte ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 16 KB ๐Ÿ‘ 2 views

We report on a 16-week-old male fetus with partial trisomy 16 and partial monosomy 22 resulting from 3:3 adjacent-2 segregation of a maternal balanced complex chromosome translocation involving chromosomes 5, 16, and 22. The karyotype of the 29-year-old p h e n o t y p i c a l l y n o r m a l m o t