학술논문
ASSOCIATION OF FRAGILE X SYNDROME, ROBERTSONIAN TRANSLOCATION (13, 22) AND AUTISM IN A CHILD.
Document Type
Case Study
Author
Source
Subject
*FRAGILE X syndrome
*CHROMOSOMAL rearrangement
*PATIENTS
*THERAPEUTICS
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Language
ISSN
1222-2119
Abstract
We describe the case of a 6-year-old boy with both fragile X syndrome and Robertsonian Translocation (45, XY, der (13; 22) (q10; q10)). This is the first reported case of a patient with fragile X syndrome with this Robertsonian translocation. Facial features and macroorchidism were consistent with fragile X syndrome. Cognitive impairment is more significant than in his sibling with fragile X syndrome, and the patient also has a prior diagnosis of autism spectrum disorder. We emphasize the challenges in his behavioral management and outline future directions for his management. [ABSTRACT FROM AUTHOR]