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A de novo duplication of Xp11.22–p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome

✍ Scribed by Simon T. Holden; Amanda Clarkson; N. Simon Thomas; Kristin Abbott; Matthew R. James; Lionel Willatt


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
219 KB
Volume
152A
Category
Article
ISSN
1552-4825

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Random X-inactivation in a girl with dup
✍ Matsuo, Mari; Muroya, Koji; Kosaki, Kenjiro; Ishii, Takashi; Fukushima, Yoshimit 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 45 KB 👁 3 views

We describe a 10-month-old girl with abnormal clinical findings and Xp duplication. She showed poor weight gain and developmental retardation, and had several minor anomalies including pigmentary dysplasia (hypomelanosis of Ito). She had a partial short arm duplication in the paternally derived X ch