A patient with convulsive syndrome and partial tetrasomy of chromosome 15.
نویسندگان
چکیده
منابع مشابه
Confluent and reticulated papillomatosis associated with 15q tetrasomy syndrome.
© 2013 The Authors. doi: 10.2340/00015555-1437 Journal Compilation © 2013 Acta Dermato-Venereologica. ISSN 0001-5555 Chromosome 15q tetrasomy is in the heterogeneous group of extra-structurally abnormal chromosomes (1). The syndrome displays distinctive clinical findings represented by developmental delay, intellectual disability, epilepsy and autistic behaviour. Skin pigmentation has been obse...
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D own’s syndrome is caused by trisomy of chromosome 21. This invariably results in cognitive impairment, hypotonia, and characteristic phenotypic features such as flat facies, upslanting palpebral fissures, and inner epicanthal folds, and variations in digits and the ridge formation on hands and feet. Furthermore, trisomy 21 is a risk factor for congenital heart disease, Hirschsprung’s disease,...
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D own’s syndrome is caused by trisomy of chromosome 21. This invariably results in cognitive impairment, hypotonia, and characteristic phenotypic features such as flat facies, upslanting palpebral fissures, and inner epicanthal folds, and variations in digits and the ridge formation on hands and feet. Furthermore, trisomy 21 is a risk factor for congenital heart disease, Hirschsprung’s disease,...
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The inv dup(15) or idic(15) syndrome displays distinctive clinical findings represented by early central hypotonia, developmental delay and intellectual disability, epilepsy, and autistic behaviour. Incidence at birth is estimated at 1 in 30,000 with a sex ratio of almost 1:1. Developmental delay and intellectual disability affect all individuals with inv dup(15) and are usually moderate to pro...
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Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive...
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ورودعنوان ژورنال:
- Neurologia
دوره 28 3 شماره
صفحات -
تاریخ انتشار 2013