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
β¦ LIBER β¦
Lack of X inactivation: Loss of one X inactivation center in a case with mos45,X, -21, +der(21)t(X;21) (p21.3;p11.2)/46,X,t(X;21) (p21.3;p11.2)
β Scribed by Ishikiriyama, Satoshi ;Iai, Mizue ;Tanabe, Yuzo
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 453 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0148-7299
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