Two balanced translocations in three generations of a pedigree: t(7;10) (q11;q22) and t(14;21) (14qter to cen to 21qter)1.
نویسندگان
چکیده
A reciprocal chromosome translocation between 7q and 10q and an unrelated Robertsonian translocation involving 14q and 21q were found in a healthy 44-year-old man, in his normal 18-year-old son, and in his mother. They were ascertained through the man's brother, whose grandson has Down's syndrome as a result of an inherited 14q21q translocation. To our knowledge, this is the second report of a karyotype with both reciprocal and Robertsonian translocations in a single subject, and only the fourth report of independently segregating double translocations occurring in more than one generation.
منابع مشابه
عقبماندگی ذهنی مرتبط با ناهنجاری کروموزومی در یک خانواده ایرانی: گزارش سه مورد
Background: Mental retardation is defined as impaired mental capacity and ability to comply with environmental and social conditions. Chromosomal abnormalities are the most important causes of mental retardation. Carriers of balanced chromosomal translocation are phenotypically normal, although they may be at risk of infertility, recurrent miscarriage or giving birth to mentally retarded childr...
متن کاملThe Survey of Double Robertsonian Translocation 13q; 14q in the Pedigree of 44; XX Woman: A Case Report
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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Reciprocal chromosome translocations, especially balanced rearrangements are known to be one of the main causes of recurrent miscarriage. In this case report, we performed the clinical and cytogenetic analysis on a young couple with two pregnancy losses. Though the couple had a normal clinical study, the cytogenetic analysis revealed a balanced reciprocal translocation of t(2;14)(q11;q24) where...
متن کاملThe t(14;21)(q11.2;q22) chromosomal translocation associated with T-cell acute lymphoblastic leukemia activates the BHLHB1 gene.
We have cloned the genomic breakpoints for a balanced t(14;21)(q11. 2;q22) chromosomal translocation associated with T-cell acute lymphoblastic leukemia. Sequence analysis of the genomic breakpoints indicated that the translocation had been mediated by an illegitimate V(D)J recombination event that disrupted the T-cell receptor (TCR) alpha locus and placed the TCR alpha locus enhancer on the de...
متن کاملVariant Ph translocations in chronic myeloid leukemia.
Variant translocations were found in eight of 142 consecutive patients with Ph-positive, chronic myeloid leukemia encountered in our laboratory during the last decade. Two patients had simple, two-way variant translocations: t(17;22)(p13;q11) and t(16;22)(q24;q11). Both of these patients had an additional translocation involving chromosomes #9: t(7;9)(q22;q34) and t(9;17)(q34;q21), respectively...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 16 3 شماره
صفحات -
تاریخ انتشار 1979