We report on a 5-year-old girl with multiple congenital anomalies, developmental delay, and a de novo unbalanced translocation between chromosomes X and 1[46,X,der(X)-t(X;1)(q24;q31.1)] resulting in partial trisomy 1q and partial monosomy Xq. The karyotype shows inactivation of the abnormal X chromo
Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]
โ Scribed by Yatsenko, Svetlana A. ;Sahoo, Trilochan ;Rosenkranz, Melinda ;Mendoza-Londono, Roberto ;Naeem, Rizwan ;Scaglia, Fernando
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 183 KB
- Volume
- 128A
- Category
- Article
- ISSN
- 0148-7299
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