scholarly journals Paternal uniparental disomy of chromosome 21

2020 ◽  
Author(s):  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 21 ◽  
Paternal Uniparental Disomy

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
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