Trisomy 21 with 47,+18 lymphocyte cell line: double mitotic nondisjunction.
نویسندگان
چکیده
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.
منابع مشابه
Down Syndrome: Clinical and Genetic Aspects, Genetic Counseling and Prenatal Screening and Diagnosis
Down syndrome (DS) or trisomy 21 is the most common genetic disorder with a prevalence of 1 in 660 live births [1]. In 1959, Lejeune and colleagues discovered the genetic basis of DS and named as trisomy of chromosome 21, which is the smallest human autosomal chromo‐ some [2]. Trisomy 21 can occur as three types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism. Free tri...
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Despite the clinical importance of trisomy 21, we have been ignorant of the causes of meiotic nondisjunction of chromosome 21. Recently, however, genetic mapping studies of trisomy 21 families have led to the identification of the first molecular correlate of human nondisjunction; i.e. altered levels and positioning of meiotic recombinational events. Specifically, increases in 0 exchange events...
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Down syndrome (DS, also known as trisomy 21) most often results from chromosomal nondisjunction during oogenesis. Numerous studies sustain a causal link between global DNA hypomethylation and genetic instability. It has been suggested that DNA hypomethylation might affect the structure and dynamics of chromatin regions that are critical for chromosome stability and segregation, thus favouring c...
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There have been relatively few reports of individuals with double autosomal trisomy (Gagnon et al., 1961; Becker, Burke, and Albert, 1963; Hsu et al., 1965; Marks, Wiggins, and Spector, 1967). There have been rather more published accounts of individuals showing trisomy for one autosome and an additional chromosome in the sex chromosome complement as well. Of these, only those with the sex chro...
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Trisomy 21, resulting in Down Syndrome (DS), is the most common autosomal trisomy among live-born infants and is caused mainly by nondisjunction of chromosome 21 within oocytes. Risk factors for nondisjunction depend on the parental origin and type of meiotic error. For errors in the oocyte, increased maternal age and altered patterns of recombination are highly associated with nondisjunction. ...
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عنوان ژورنال:
- Journal of medical genetics
دوره 15 5 شماره
صفحات -
تاریخ انتشار 1978