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Developmental disability and hypomelanosis of Ito in a female with 7.3 Mb de novo duplication of Xp11.3-p11.4 and random X inactivation

โœ Scribed by Ying S. Zou; Jeff M. Milunsky


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

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Random X-inactivation in a girl with dup
โœ Matsuo, Mari; Muroya, Koji; Kosaki, Kenjiro; Ishii, Takashi; Fukushima, Yoshimit ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 45 KB ๐Ÿ‘ 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