## Abstract ## BACKGROUND The phenotypic expression of an additional chromosome 9 causes a very broad clinical spectrum of anomalies. The prognosis for infants with nonβmosaic tetrasomy 9p is poor, and they usually die at a very early age. ## CASE In this article we present a new case of complet
Mosaic tetrasomy 21 in severe mental handicap
β Scribed by J. P. Fryns; P. Petit; L. Vinken; J. Geutjens; J. Marien; H. Berghe
- Book ID
- 104775599
- Publisher
- Springer
- Year
- 1982
- Tongue
- English
- Weight
- 786 KB
- Volume
- 139
- Category
- Article
- ISSN
- 0340-6997
No coin nor oath required. For personal study only.
β¦ Synopsis
A 5-year-old boy with severe mental handicap, dysmorphic stigmata and a tetrasomy 21 in fibroblasts is reported. Blood lymphocytes of the patient have a normal karyotype. The origin of this tetrasomy 21 mosaicism is discussed.
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We present a case of mosaic 5p tetrasomy. The mosaicism 46,XX/47,XX,Ο©i(5p) was found at different ratios in blood lymphocytes, skin fibroblasts, and chondrocytes. The origin of the extra isochromosome was confirmed by FISH. The clinical picture corresponds to that described in trisomy 5p patients, a
## Abstract This study examined the nature and prevalence of abnormal movements in adults with Down's syndrome and also the clinical correlates of orofacial dyskinesia and the relationship between dyskinesia and the level of functional and intellectual disability. Movement disorder, language age, a
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