Complex and segmental uniparental disomy updated
نویسندگان
چکیده
منابع مشابه
Complex and segmental uniparental disomy updated.
OBJECTIVE To review all cases with segmental and/or complex uniparental disomy (UPD) and to discuss the impact of these cases on medical genetics. DESIGN Searching for published reports in PubMed and in the abstract books of the annual meetings of the American Society of Human Genetics and the European Society of Human Genetics up to March 2008. RESULTS In total, 26 cases with segmental UPD...
متن کاملReview article Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements
Objective—To review all cases with segmental and/or complex uniparental disomy (UPD), to study aetiology and mechanisms of formation, and to draw conclusions. Design—Searching published reports in Medline. Results—The survey found at least nine cases with segmental UPD and a normal karyotype, 22 cases with UPD of a whole chromosome and a simple or a nonhomologous Robertsonian translocation, eig...
متن کاملComplex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.
OBJECTIVE To review all cases with segmental and/or complex uniparental disomy (UPD), to study aetiology and mechanisms of formation, and to draw conclusions. DESIGN Searching published reports in Medline. RESULTS The survey found at least nine cases with segmental UPD and a normal karyotype, 22 cases with UPD of a whole chromosome and a simple or a non-homologous Robertsonian translocation...
متن کاملUniparental disomy and prenatal phenotype
RATIONALE Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES The prenatal phenotype of case 1 included sonographic markers such as enlarg...
متن کاملReciprocal uniparental disomy in yeast.
In the diploid cells of most organisms, including humans, each chromosome is usually distinguishable from its partner homolog by multiple single-nucleotide polymorphisms. One common type of genetic alteration observed in tumor cells is uniparental disomy (UPD), in which a pair of homologous chromosomes are derived from a single parent, resulting in loss of heterozygosity for all single-nucleoti...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2008
ISSN: 1468-6244
DOI: 10.1136/jmg.2008.058016