Mitotic errors in trisomy 21

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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...

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Trisomy 21 with 47,+18 lymphocyte cell line: double mitotic nondisjunction.

A patient with Down's syndrome was found to have 47,XX,+18/47,XX,+21 mosaicism. Chromosome 18 trisomy was found only in 18% of lymphocytes and not in skin fibroblasts. A likely interpretation is double nondisjunction in a single lymphocyte precursor of a trisomy 21 embryo. A brief review of other cases of mitotic multiple nondisjunction and double aneuploid mosiacism is presented.

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Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome.

Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome* Summary. Trisomy 21 mosaicism was identified by fluorescent quinacrine banding in a phenotypically normal mother, who gave birth to two children with trisomy 21 Down's syndrome. Trisomy 21 Down's syndrome associated with maternal mosaicism was first described by Smith et al in 1962. Since then there have been at ...

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Trisomy 21 tilts the balance.

Approximately 5% of children with Down syndrome (DS) are born with a unique transient clonal megakariyo-erythroblastic proliferation disorder often called transient myeloproliferative disorder (TMD). Spontaneous recovery usually occurs within up to several months. However, about one-fifth of these patients will develop full-blown acute leukemia with biphenotypic megakaryocyticerythroid features...

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Lymphocyte respiration in children with Trisomy 21

BACKGROUND This study measured lymphocyte mitochondrial O(2) consumption (cellular respiration) in children with trisomy 21. METHODS Peripheral blood mononuclear cells were isolated from whole blood of trisomy 21 and control children and these cells were immediately used to measure cellular respiration rate. [O(2)] was determined as a function of time from the phosphorescence decay rates (1/τ...

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ژورنال

عنوان ژورنال: Nature Genetics

سال: 1993

ISSN: 1061-4036,1546-1718

DOI: 10.1038/ng1193-215a