De novo duplication 13q (46,XX,dup(13)(q21→q333))
نویسندگان
چکیده
منابع مشابه
A case of de novo duplication of 15q24-q26.3
Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some ca...
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We report here a case of a newborn with hypotrophy and somatic stigmatization: microcephaly, facial dysmorphism, heart defect and immunodeficiency syndrome. The proband's karyotype was 46,XY,dup(4)(q28q35.2) de novo with chromosomal breaks in 4% of metaphases. We demonstrate the usefulness of a combination of physical examination, classical cytogenetics, FISH and PCR techniques in order to esta...
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Ectopic recombination between repeated but nonallelic DNA sequences plays a major role in genome evolution, creating gene families and generating copy number variation and pathological rearrangements in human chromosomes. Previous studies on the 2and 1-globin genes have shown that de novo deletions common in -thalassemics can be directly accessed in human DNA and provide an informative system f...
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Histoid Leprosy (HL) is a rare variant of Lepromatous Leprosy, occurring in long-standing cases, mostly in a background of acquired drug resistance. Patients usually present with sudden onset multiple nodules and plaques, most often involving the skin and subcutaneous tissue of trunk and lower limbs. Here we report an unusual case of de novo (without any history of prior anti-leprotic therapy) ...
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Multi-objective De Novo linear programming (MODNLP) is problem for designing optimal system by reshaping the feasible set (Fiala [3] ). This paper deals with MODNLP having possibilistic objective functions coefficients. The problem is considered by inserting possibilistic data in the objective functions coefficients. The solution of the problem is defined and established under the using of effi...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 1981
ISSN: 0340-6717,1432-1203
DOI: 10.1007/bf00282835