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A case of autism and mosaic of trisomy 8

โœ Scribed by Larry Burd; Jacob Kerbeshian; Wayne Fisher; John T. Martsolf


Publisher
Springer US
Year
1985
Tongue
English
Weight
93 KB
Volume
15
Category
Article
ISSN
1573-3432

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๐Ÿ“œ SIMILAR VOLUMES


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An 8-year-old male with mental retardation, speech difficulties, and minor congenital anomalies is presented. The clinical findings suggest the trisomy-8 syndrome. The karyotype indicates trisomy-8 mosaicism with trisomic as well as normal cell lines in blood lymphocytes.

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I have read with great interest the paper by Crowe et al. [1997]. It is an excellent clinical and cytogenetic review of trisomy 22 in its various manifestations. I only wish to point out that the first proven case (by G-banding) of trisomy 22 appeared in 1973, in a paper in which we demonstrated the

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In a case of mosaic trisomy 22 the trisomic cells were detected primarily in fibroblasts. Results of initial lymphocyte chromosome analysis were normal. However, mosaicism was suspected because the patient had hypomelanosis of Ito, hemiatrophy, failure to thrive, and mental retardation. Mosaicism wa

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While the clinical features associated with full trisomy 13 have been well characterized, the clinical outcome associated with mosaic trisomy 13 is much less clear. The medical literature reports a broad range of possible clinical outcomes from severe mental retardation and birth defects to normal i

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We describe a patient with trisomy 8 mosaicism followed through a sixth pregnancy and discuss issues in phenotypic and genotypic variability, the risk for neoplasia, and reproductive risks.