Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21
نویسندگان
چکیده
منابع مشابه
Lipid peroxidation in Down syndrome caused by regular trisomy 21, trisomy 21 by Robertsonian translocation and mosaic trisomy 21.
BACKGROUND It has been suggested that an increase in oxidative stress in individuals with Down syndrome (DS) may cause adverse effects in the cell membranes through the oxidation of polyunsatured fatty acids. METHODS We examined erythrocyte malondialdehyde (MDA) levels in 100 individuals of both sexes (34 males and 66 females) with DS, aged from newborn to 29 years. The cytogenetic analysis r...
متن کاملPartial trisomy of chromosome 21 without the Down syndrome phenotype.
Department of Obstetrics and Gynecology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan Department of Obstetrics and Gynecology, Kuo General Hospital, Tainan, Taiwan Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan *Correspondence to: Pao-Lin Kuo. E...
متن کاملMaternal Germinal Trisomy 21 in Down Syndrome
It has now been over 50 years since it was discovered that Down syndrome is caused by an extra chromosome 21, i.e., trisomy 21. In the interim, it has become clear that in the majority of cases, the extra chromosome is inherited from the mother, and there is, in this respect, a strong maternal age effect. Numerous investigations have been devoted to clarifying the underlying mechanism, most rec...
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Down syndrome (mongolism) is one of the commonest chromosomal abnormalities in man with an incidence of between 1 and 2 per 1000 live births. In Northern Ireland the incidence is 1 in 6301. About 95 per cent have 47 instead of 46 chromosomes with an extra chromosome 21 (Trisomy 21). A small proportion , between 2 and 5 per cent are due to an unbalanced chromosomal translocation, usually involvi...
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A case of palmoplantar hyperkeratosis with periodontosis and a history of recurrent severe pyoderma, pneumonia and multiple liver abscesses is described in a 12 year old girl. The patient demonstrated neutrophil dysfunction characterized by decreased random migration and chemotaxis and defective bactericidal activity. The exact immunopathological mechanism for susceptibility to infections i...
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2007
ISSN: 0012-1622,1469-8749
DOI: 10.1111/j.1469-8749.2002.tb00261.x