Placental hypoplasia in maternal uniparental disomy for chromosome 7

2008 ◽  
Vol 146A (4) ◽  
pp. 514-516 ◽  
Author(s):  
Kazuki Yamazawa ◽  
Masayo Kagami ◽  
Masamichi Ogawa ◽  
Reiko Horikawa ◽  
Tsutomu Ogata
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 7 ◽  
Maternal Uniparental Disomy

Maternal Uniparental Disomy for Chromosome 7

2009 ◽  
pp. 1267-1267
Author(s):  
Mark Oette ◽  
Marvin J. Stone ◽  
Hendrik P. N. Scholl ◽  
Peter Charbel Issa ◽  
Monika Fleckenstein ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 7 ◽  
Maternal Uniparental Disomy

Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7

2010 ◽  
Vol 152A (9) ◽  
pp. 2342-2345 ◽  
Author(s):  
Zornitza Stark ◽  
Monique M. Ryan ◽  
Damien L. Bruno ◽  
Trent Burgess ◽  
Ravi Savarirayan
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 7 ◽  
Maternal Uniparental Disomy

Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7

2000 ◽  
Vol 159 (12) ◽  
pp. 929-929 ◽  
Author(s):  
Steph Potgieter ◽  
Gert Matthijs ◽  
Paul De Cock ◽  
Jean-Pierre Fryns
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 7 ◽  
Maternal Uniparental Disomy ◽  
Preaxial Polydactyly ◽  
Language Deficit

scholarly journals Multiple Segmental Uniparental Disomy Associated with Abnormal DNA Methylation of Imprinted Loci in Silver-Russell Syndrome

2012 ◽  
Vol 97 (11) ◽  
pp. E2188-E2193 ◽  
Author(s):  
Renuka P. Dias ◽  
Irina Bogdarina ◽  
Jean-Baptiste Cazier ◽  
Charles Buchanan ◽  
Malcolm C. Donaldson ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Mrna Expression ◽  
Single Nucleotide Polymorphism Array ◽  
Uniparental Disomy ◽  
Postnatal Growth ◽  
Chromosome 7 ◽  
Imprinted Genes ◽  
Methylation Array ◽  
Maternal Uniparental Disomy ◽  
Silver Russell Syndrome

Background: Silver-Russell syndrome (SRS; online inheritance in man 180860) is a low-birth-weight syndrome characterized by postnatal growth restriction and variable dysmorphic features. Although maternal uniparental disomy (UPD) of chromosome 7 and hypomethylation of H19 have been reported in up to 50% of all cases, no unifying mechanism is apparent. Subjects and Methods: Ten patients and their parents were studied using the Illumina GoldenGate methylation array and the Illumina 370K HumHap single-nucleotide polymorphism array to identify aberrations in DNA methylation as well as genomic changes including copy number changes and uniparental disomy events. Results: We found evidence of UPD events outside chromosome 7 in all patients. In up to 30% of patients with SRS, DNA methylation changes occur in imprinted gene loci outside 11p15.5 (PEG3, PLAGL1, and GRB10), not previously consistently linked with SRS. Furthermore, hypermethylation of GRB10 was associated with increased mRNA expression. In addition, 20% of patients appear to have DNA methylation abnormalities within multiple loci. Not all the imprinted loci with methylation defects were affected directly by UPD. Conclusions: The association of widespread UPD associated with abnormal methylation and mRNA expression in imprinted genes in SRS is consistent with the concept of UPD as an initial genomic abnormality leading to unstable DNA methylation within the regulatory network of imprinted genes. Furthermore, disruption of any one of these genes may contribute to the heterogeneous clinical spectrum of SRS.

Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face

2006 ◽  
Vol 15 (1) ◽  
pp. 9-12 ◽  
Author(s):  
Thomas Eggermann ◽  
Ines Krause-Plonka ◽  
Hartmut A. Wollmann ◽  
Klaus Zerres ◽  
Guang Dai ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Marker Chromosome ◽  
Uniparental Disomy ◽  
Chromosome 7 ◽  
Triangular Face ◽  
Maternal Uniparental Disomy

scholarly journals Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7

2013 ◽  
Vol 84 (4) ◽  
pp. 368-372 ◽  
Author(s):  
MB Sheridan ◽  
A Bytyci Telegrafi ◽  
V Stinnett ◽  
CC Umeh ◽  
Z Mari ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 7 ◽  
Maternal Uniparental Disomy ◽  
Myoclonus Dystonia ◽  
Silver Russell Syndrome
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