Down syndrome caused by 21; 21 robertsonian translocation
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 کاملA rare non-Robertsonian translocation involving chromosomes 15 and 21.
CONTEXT Robertsonian translocations (RT) are among the most common balanced structural rearrangements in humans and comprise complete chromatin fusion of the long arm of two acrocentric chromosomes. Nevertheless, non-Robertsonian translocation involving these chromosomes is a rare event. CASE REPORT We report a de novo unbalanced translocation involving chromosomes 15 and 21. The newborn was ...
متن کاملDown syndrome associated with a familial 14/21 translocation.
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...
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...
متن کاملA giant short arm of no. 21 chromosome in mother of 21/21 translocation mongol.
An extreme variation of the short arm of no. 21 chromosome in the mother of a 21/21 translocation mongol is described. The possible relation between the very long short arm of chromosome no. 21 in the mother and a centric fusion type of translocation mongolism in the offspring is discussed.
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ژورنال
عنوان ژورنال: Sri Lanka Journal of Medicine
سال: 2018
ISSN: 2579-1990,1021-2604
DOI: 10.4038/sljm.v27i2.85