Unbalanced whole-arm translocation der(1;10)(q10-q11;p10-p12)
نویسندگان
چکیده
منابع مشابه
Unbalanced whole-arm translocation der(5;19)(p10;q10) is a novel and recurrent cytogenetic aberration in myelodysplastic syndrome.
We describe here two cases of myelodysplastic syndrome (MDS) with a novel unbalanced translocation der(5;19)(p10;q10). Both patients had complex karyotypes including der(5;19) accompanied by an extra chromosome 19, resulting in deletion of the whole long arm of chromosome 5. Furthermore, these patients presented several common clinical and hematological characteristics: MDS subtypes as refracto...
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A 2 1/2 year old girl is reported with a de novo 13;18 unbalanced translocation and the facial features of Williams syndrome, subaortic stenosis, failure to thrive, and developmental delay. This case provides two candidate locations for the underlying molecular pathology of this sporadic syndrome. Williams syndrome is associated with intellectual and growth retardation, infantile feeding proble...
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A patient with Turner phenotype was found to carry two de novo chromosome aberrations: a 45,X line and a whole arm reciprocal translocation t(3;9). Fluorescence in situ hybridisation on metaphase cells using alpha satellite DNA for chromosome 3 and beta satellite and 'classical' satellite DNA for chromosome 9 showed that the centromeric region of chromosome 3 was retained in the 3q9q translocat...
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Unbalanced and balanced Y;autosome translocations are rare structural rearrangements that constitute a heterogeneous group. According to Nielsen and Rasmussen, the frequency of these translocations in the general population is approximately 1 in 2000 (six cases out of 11 148 newborn infants). All these six cases were in an unbalanced form. In the majority of cases, there is a non-reciprocal tra...
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This is the first reported case of an unbalanced chromosome rearrangement resulting in trisomy 5q35.5-->qter and monosomy 16p 13.3-->pter, in a boy with mental and growth retardation, minor anomalies, and a history of bilateral papillary thyroid carcinoma. This was the result of a familial balanced translocation. The clinical and cytogenetic manifestations of the case are presented and the poss...
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2018
ISSN: 1768-3262
DOI: 10.4267/2042/66074