Rett syndrome (RS) was diagnosed in a girl with a t(X;22)(p11.22;pll). This translocation was also present in her unaffected mother and her sister affected by a neurological disorder compatible with a ''forme fruste" of RS. Different etiological mechanisms are considered: gene disruption, X inactiva
Cryptic X; Autosome Translocation in a Boy—Delineation of the Phenotype
✍ Scribed by Aleksandra Jezela-Stanek; Elżbieta Ciara; Marzena Juszczak; Magdalena Pelc; Anna Materna-Kiryluk; Małgorzata Krajewska-Walasek
- Book ID
- 116825868
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 480 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0887-8994
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