scholarly journals Paternal uniparental disomy of chromosome 20

2020 ◽  
Author(s):  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 20 ◽  
Paternal Uniparental Disomy

scholarly journals Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 172
Author(s):  
Sanaa Choufani ◽  
Jung Min Ko ◽  
Youliang Lou ◽  
Cheryl Shuman ◽  
Leona Fishman ◽  
...  
Keyword(s):  
Snp Array ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Single Individual ◽  
Imprinting Disorders ◽  
Chromosome 20 ◽  
First Case ◽  
Entire Chromosome ◽  
Paternal Uniparental Disomy ◽  
Chromosome 11P15.5

Epigenetic alterations at imprinted genes on different chromosomes have been linked to several imprinting disorders (IDs) such as Beckwith-Wiedemann syndrome (BWS) and pseudohypoparathyroidism type 1b (PHP1b). Here, we present a male patient with these two distinct IDs caused by two independent mechanisms-loss of methylation (LOM) at chromosome 11p15.5 associated with multi-locus imprinting disturbances (MLID and paternal uniparental disomy of chromosome 20 (patUPD20). A clinical diagnosis of BWS was made based on the clinical features of macrosomia, macroglossia, and umbilical hernia. The diagnosis of PHP1b was supported by the presence of reduced growth velocity and mild learning disability as well as hypocalcemia and hyperphosphatemia at 14 years of age. Molecular analyses, including genome-wide DNA methylation (Illumina 450k array), bisulfite pyrosequencing, single nucleotide polymorphism (SNP) array and microsatellite analysis, demonstrated loss of methylation (LOM) at IC2 on chromosome 11p15.5, and paternal isodisomy of the entire chromosome 20. In addition, imprinting disturbances were noted at the differentially methylated regions (DMRs) associated with DIRAS3 on chromosome 1 and PLAGL1 on chromosome 6. This is the first case report of PHP1b due to patUPD20 diagnosed in a BWS patient with LOM at IC2 demonstrating etiologic heterogeneity for multiple imprinting disorders in a single individual.

A Case of Angelman Syndrome Arising as a Result of a De Novo Robertsonian Translocation

1996 ◽  
Vol 45 (1-2) ◽  
pp. 255-261 ◽  
Author(s):  
S. Ramsden ◽  
L. Gaunt ◽  
A. Seres-Santamaria ◽  
J. Clayton-Smith
Keyword(s):  
Angelman Syndrome ◽  
Robertsonian Translocation ◽  
De Novo ◽  
Uniparental Disomy ◽  
Male Child ◽  
Paternal Uniparental Disomy

AbstractA male child has been identified with Angelman syndrome. He has been shown to carry a de novo Robertsonian 15/15 translocation where both chromosome 15s have been derived from the father. Consequently the disease in this instance is due to paternal uniparental disomy.

Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy

2015 ◽  
Vol 29 (4) ◽  
pp. 178-182
Author(s):  
Francesco Nicita ◽  
Giacomo Garone ◽  
Laura Papetti ◽  
Federica Consoli ◽  
Monia Magliozzi ◽  
...  
Keyword(s):  
Angelman Syndrome ◽  
Uniparental Disomy ◽  
Paternal Uniparental Disomy

Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus

1999 ◽  
Vol 134 (1) ◽  
pp. 42-46 ◽  
Author(s):  
Susan L. Christian ◽  
Barry H. Rich ◽  
Charli Loebl ◽  
Jeannette Israel ◽  
Rohitkumar Vasa ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Genetic Testing ◽  
Uniparental Disomy ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Chromosome 6 ◽  
Paternal Uniparental Disomy

Foetal phenotype of ALG1-CDG caused by paternal uniparental disomy 16

2020 ◽  
pp. 1-3
Author(s):  
Ya-Li Lei ◽  
Li Zhen ◽  
Li-Li Xu ◽  
Yan-Dong Yang ◽  
Dong-Zhi Li
Keyword(s):  
Uniparental Disomy ◽  
Paternal Uniparental Disomy

Paternal uniparental disomy of chromosome 14: Confirmation of a clinically-recognizable phenotype

2004 ◽  
Vol 130A (1) ◽  
pp. 88-91 ◽  
Author(s):  
David A. Stevenson ◽  
Arthur R. Brothman ◽  
Zhong Chen ◽  
Pinar Bayrak-Toydemir ◽  
Nicola Longo
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Paternal Uniparental Disomy

Mother–child exclusion due to paternal uniparental disomy 6

2006 ◽  
Vol 120 (5) ◽  
pp. 282-285 ◽  
Author(s):  
R. Wegener ◽  
V. Weirich ◽  
E. M. Dauber ◽  
W. R. Mayr
Keyword(s):  
Uniparental Disomy ◽  
Paternal Uniparental Disomy

Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy

2012 ◽  
Vol 21 (4) ◽  
pp. 208-211 ◽  
Author(s):  
Victoria Harrison ◽  
Jane Hurst ◽  
Anjali Lloyd-Jani ◽  
Tracy Lester ◽  
Margaret Lever ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Paternal Uniparental Disomy
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