De novo tandem duplication 17p11->cen
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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Protein identification is usually achieved by tandem mass spectrometry (MS/MS). Because of the difficulty in measuring complete proteins using MS/MS, typically a protein is enzymatically digested into peptides and the MS/MS spectrum of each peptide is measured. The database searching methods are predominant in the task of peptide identification. Their aim is to find the best match between model...
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The impact of mixture spectra deconvolution on the performance of four popular de novo sequencing programs was tested using artificially constructed mixture spectra as well as experimental proteomics data. Mixture fragmentation spectra are recognized as a limitation in proteomics because they decrease the identification performance using database search engines. De novo sequencing approaches ar...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1983
ISSN: 1468-6244
DOI: 10.1136/jmg.20.2.138