uniparental disomy
Cytogenetic contribution to uniparental disomy (UPD)
... Uniparental disomy (UPD) is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that at least one third of UPD cases emerge in ...
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Genome-wide acquired uniparental disomy as well as chromosomal gains and losses in an uterine epithelioid leiomyoma
... In the case presented herein, array-based CNV detection not only allowed to detect copy number variations but also copy-number-neutral loss of heterozygosity (LOH) or uniparental disomy, respectively. ...
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Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence
... hypocholesterolemic disorder characterized by a malabsorption syndrome with steatorrhea, failure to thrive and the absence of chylomicrons and apolipoprotein B48 post-prandially. All patients studied to date exhibit a ...
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Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Prenatal and Postnatal Growth Retardation of Unknown Cause
... Recently, uniparental disomy (UPD), the inheritance of both chromosomes of a chromosome pair from only 1 parent, has been associated with short stature for many ...
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Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability
... Uniparental disomy refers to the inheritance of two homologous chromosomes from one parent ...nal uniparental disomy 14 (UPD(14)mat) is a rare but clinically well-established disorder which is ...
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Soft tissue sarcoma subtypes exhibit distinct patterns of acquired uniparental disomy
... Methods: In this study, we analyzed SNP microarray data to determine the frequency and distribution patterns of acquired uniparental disomy (aUPD) in major soft tissue sarcoma (STS) subtypes using CNAG and ...
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Mutations of c-Cbl in myeloid malignancies
... Next generation sequencing has shown the frequent occurrence of point mutations in the ubiquitin E3 ligase c-Cbl in myeloid malignancies. Mouse models revealed a causal contribution of c-Cbl for the onset of such ...
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Mosaic UPD(7q)mat in a patient with silver Russell syndrome
... Uniparental disomy (UPD) of chromosome 7q was de- tected by CMA, spanned from the region of 7q11 to 7qter. The B allele frequency indicated that the UPD re- gion was homozygous and mosaic (Fig. 2a), and the ...
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Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis
... maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction ...
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Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies
... Here, we present a patient with monosomy 21 and a duplication in the 21q22.11q22.3 region on the remaining derivative chromosome 21 which represent a partial uniparental disomy (UPD), wi[r] ...
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Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction
... been introduced into clinical practice, due to its high- resolution and whole-genome screening feature. Single- nucleotide polymorphism (SNP) array, a CMA platform used in prenatal diagnosis, can detect almost all ...
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Prezygotic and Postzygotic Control of Uniparental Mitochondrial DNA Inheritance in Cryptococcus neoformans
... ABSTRACT Uniparental inheritance of mitochondrial DNA is pervasive in nonisogamic higher eukaryotes during sexual repro- duction, and postzygotic and/or prezygotic factors are shown to be important in ensuring ...
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Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader–Willi syndrome
... PWS- disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Question- naire (SCQ) score ≥15, and PWS subgroup with a SCQ score ...
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LINKAGE OF A KNOWN CHLOROPLAST GENE MUTATION TO THE UNIPARENTAL GENOME OF CHLAMYDOMONAS REINHARDII
... T h e paternal marker selection method we have tested achieves the objective of producing reliable maps from the scoring of relatively few progeny cells. T h e maps f[r] ...
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Activation of an imprinted allele of the insulin like growth factor II gene implicated in rhabdomyosarcoma
... rhabdomyosarcoma (RMS). We report here that the normally imprinted allele of the IGF2 gene is activated in RMS tumors as well as in one RMS cell line. Since overexpression of IGF2 has been shown to be important in the ...
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Male-Dependent Doubly Uniparental Inheritance of Mitochondrial DNA and Female-Dependent Sex-Ratio in the Mussel Mytilus galloprovincialis
... With a few exceptions, doubly uniparental inheritance (DUI) of mtDNA was observed in all families fathered by four of the five males: female and male progeny contained the mother[r] ...
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Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
... To determine the parental origin of the additional ring chromosome, informative microsatellite markers within the 5 Mb pericentromeric region on chromosome 18 were selected. Genescan analysis of microsatellite mar- ker ...
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Mitochondrial genetics of Chlamydomonas reinhardtii: resistance mutations marking the cytochrome b gene.
... Segregation analysis in tetrads from reciprocal crosses of mutants with wild type shows a strict uniparental inheritance of this mutation from the mating type minus [r] ...
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Transient but Not Permanent Neonatal Diabetes Mellitus is Associated With Paternal Uniparental Isodisomy of Chromosome 6
... UPD, the uniparental chromosome pair is entirely homozygous, thus bringing an increased risk of re- cessive disorders and disruption of genomic imprint- ing. This anomaly can unmask rare recessive disor- ders in ...
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The atypical presence of the paternal mitochondrial DNA in somatic tissues of male and female individuals of the blue mussel species Mytilus galloprovincialis
... Background Contrary to the general rule of maternal inheritance of mitochondrial DNA mtDNA in metazoans [1-3], in some bivalve mollusks we observe the phenomenon of Doubly Uniparental In[r] ...
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