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

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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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Risk factors for nondisjunction of trisomy 21.

The leading cause of Down syndrome (DS) is nondisjunction of chromosome 21 occurring during the formation of gametes. In this review, we discuss the progress made to identify risk factors associated with this type of chromosome error occurring in oogenesis and spermatogenesis. For errors occurring in oocytes, the primary risk factors are maternal age and altered recombination. We review the cur...

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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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Trisomy 21: association between reduced recombination and nondisjunction.

To assess the association between recombination and nondisjunction of chromosome 21, we analyzed cytogenetic and DNA markers in 104 trisomy 21 individuals and their parents. Our DNA marker studies of parental origin were informative in 100 cases, with the overwhelming majority (94) being maternal in origin. This value is significantly higher than the 75%-80% maternal nondisjunction rate typical...

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Analysis of mitotic nondisjunction with Aspergillus nidulans.

Two methods to detect the induction of nondisjunction with a diploid stable strain of A. nidulans are described. The first method gives only qualitative results, while the second method is quantitative and dose-effect curves can be done. Some physiological parameters affecting the induction of nondisjunction can also be studied, because either quiescent or germinating conidia can be treated wit...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1978

ISSN: 1468-6244

DOI: 10.1136/jmg.15.5.395