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Case Reports
. 2017;90(4):445-448.
doi: 10.15386/cjmed-763. Epub 2017 Oct 20.

Association of fragile X syndrome, Robertsonian translocation (13, 22) and autism in a child

Andreea Liana Rachisan  1 , Alexandru Stefan Niculae  1 , Ioana Tintea  2 , Bianca Pop  3 , Mariela Militaru  4 , Aurel Bizo  5 , Adrian Hrusca  6
Affiliations
Case Reports

Association of fragile X syndrome, Robertsonian translocation (13, 22) and autism in a child

Andreea Liana Rachisan et al. Clujul Med. 2017.

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.

Keywords: Robertsonian translocation; autism; fragile X syndrome; genetics.

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Figures

Figure 1
Figure 1
The Karyotype in the patient showing a 45, XY, der (13; 22) (q10; q10).
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