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Inv dup del(4)(:p13 → p16.3::p16.3 → qter) in a girl without typical manifestations of Wolf–Hirschhorn syndrome

✍ Scribed by Giorgio A. Paskulin; Mariluce Riegel; Philip D. Cotter; Andrea Kiss; Rafael F.M. Rosa; Paulo R.G. Zen; Rômulo Mombach; Carla Graziadio


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
232 KB
Volume
149A
Category
Article
ISSN
1552-4825

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?Tandem? duplication of 4p16.1p16.3 chro
✍ Zollino, M.; Wright, T.J.; Di Stefano, C.; Tosolini, A.; Battaglia, A.; Altherr, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 29 KB 👁 2 views

Chromosome imbalance affecting the short arm of chromosome 4 results in a variety of distinct clinical conditions. Most of them share a number of manifestations, such as mental retardation, microcephaly, pre-and post-natal growth retardation, anteverted and low-set ears, that can be considered as no