ISSN:
1432-0533
Keywords:
Fragile X
;
Synapses
;
Dendritic spines
;
Macro-orchidism
;
Golgi stain
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary Fragile X syndrome [fra (X)] is currently accepted as the second most frequent chromosomal disorder associated with developmental disability. Although next to Down syndrome in frequency, no postmortem studies of confirmed adult cases had been reported. The autopsy examination of a 62-year-old, moderately retarded man with the fra (X) syndrome confirmed the preferential involvement of cerebral and testicular structures in this disorder.Dendritic spine abnormalities of the type observed in trisomic chromosomal disorders were associated with synaptic immaturity. Severe testicular hypogonadism accompanied bilateralmacro-orchidism, normal penis, and unilateral hydrocele. Valvular, articular, and testicular interstitial compartments showed normal histochemical staining characteristics for glycoproteins and lipids.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00687814
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