We describe two de novo intrachromosomal duplications of 1p. One case is a dir ins dup(1)(q21p21p31) in a newborn girl with low birth weight, growth retardation, and tetralogy of Fallot. The other is a 10-monthold girl with developmental delay, craniosynostosis, plagiocephaly, and an inv dup 1p34.1p
A case of de novo partial tetrasomy of distal 6p and review of the literature
โ Scribed by Ryan Stohler; Ellen Kucharski; Emily Farrow; Wilfredo Torres-Martinez; Paula Delk; Virginia C. Thurston; Gail H. Vance
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 176 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
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