DIFFERNTIAL DIAGNOSIS OF DELETION AND UNIPARENTAL DISOMY IN 15Q11.2-Q13 LOCUS
نویسندگان
چکیده
منابع مشابه
Reciprocal 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...
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 کاملComplex 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 کاملPaternal uniparental disomy 14 and related disorders
Although recent studies in patients with paternal uniparental disomy 14 [upd(14)pat] and other conditions affecting the chromosome 14q32.2 imprinted region have successfully identified underlying epigenetic factors involved in the development of upd(14)pat phenotype, several matters, including regulatory mechanism(s) for RTL1 expression, imprinting status of DIO3 and placental histological char...
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ژورنال
عنوان ژورنال: Biological Markers in Fundamental and Clinical Medicine (collection of abstracts)
سال: 2019
ISSN: 2570-5903,2570-5911
DOI: 10.29256/v.03.01.2019.escbm17