13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping
نویسندگان
چکیده
منابع مشابه
The 13q- deletion syndrome.
Since 1963 intermittent reports have appeared which indicated that deletion of a D chromosome, with or without ring formation, could be associated with various congenital malformations (Bain and Gauld, 1963; Lele, Penrose, and Stallard, 1963; Thompson and Lyons, 1965; Jacobsen, 1966; van Kempen, 1966; Bloom, Gerald, and Reisman, 1967, Gerald et al, 1967; Juberg et al, 1969; Laurent et al, 1967;...
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One of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. We report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. Chromosomal studies were performed on the basis of G-banding technique at high resolution and revealed 46, XX, t (16 6) (p12 q26) and 46, X...
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The Streptomyces glaucescens genome frequently undergoes gross genomic rearrangement events which result in the deletion of extremely large segments of chromosomal DNA. The structure and origin of the DNA forming the novel junctions arising from five of these deletion events are described. Only one junction proved to be the result of a relatively simple event; the remainder were more complex, w...
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one of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. we report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. chromosomal studies were performed on the basis of g-banding technique at high resolution and revealed 46, xx, t (16 6) (p12 q26) and 46, x...
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Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal girl with mu...
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2020
ISSN: 1755-8166
DOI: 10.1186/s13039-020-00500-7