Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation

2015 ◽  
Vol 167 (12) ◽  
pp. 3130-3138 ◽  
Author(s):  
Giovanni Corsello ◽  
Emanuela Salzano ◽  
Davide Vecchio ◽  
Vincenzo Antona ◽  
Marina Grasso ◽  
...  
Keyword(s):  
De Novo ◽  
Uniparental Disomy ◽  
Patient Report ◽  
Chromosome 14 ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
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.

scholarly journals MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Shinsuke Onuma ◽  
Tamaki Wada ◽  
Ryosuke Araki ◽  
Kazuko Wada ◽  
Kanako Tanase-Nakao ◽  
...  
Keyword(s):  
Japanese Patient ◽  
De Novo ◽  
Missense Variant ◽  
Phenotype Correlation ◽  
Gain Of Function ◽  
Limited Knowledge ◽  
Genotype Phenotype Correlation ◽  
Adrenal Hypoplasia

AbstractMIRAGE syndrome is a recently identified disorder characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. It is caused by a gain-of-function variant in the SAMD9 gene, but there is limited knowledge regarding the genotype–phenotype correlation. We herein report a Japanese patient with MIRAGE syndrome carrying a novel de novo heterozygous missense variant in the SAMD9 gene (c.4435 G > T; p.Ala1479Ser).

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

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

scholarly journals Maternal Uniparental Disomy for Chromosome 14

1996 ◽  
Vol 45 (1-2) ◽  
pp. 169-172 ◽  
Author(s):  
D.A. Coviello ◽  
E. Panucci ◽  
M.M. Mantero ◽  
C. Perfumo ◽  
M. Guelfi ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
De Novo ◽  
Clinical Phenotype ◽  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Motor Delay ◽  
Maternal Uniparental Disomy ◽  
Severe Scoliosis ◽  
Severe Hypotonia

AbstractA girl carrying a de novo balanced 13-14 robertsonian translocation showed a clinical phenotype with severe hypotonia, hyperextensible joints, frontal bossing, asymmetric face, no mental retardation, severe scoliosis and motor delay. In situ hybridization analysis on chromosome spreads revealed the presence of the two centromeres in the rearranged chromosomes. Molecular analysis on genomic DNA showed the presence in the proposita of two chromosomes 14 of maternal origin and no chromosome 14 from the father indicating a maternal monocentric uniparental disomy for chromosome 14 (mUPD14). Our patient shows several similarities with other reported cases of mUPD14, suggesting imprinting of a region(s) of chromosome 14 and defining a possible mUPD14 Syndrome.

Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome

2015 ◽  
Vol 41 (7) ◽  
pp. 1133-1136 ◽  
Author(s):  
Takafumi Watanabe ◽  
Hayato Go ◽  
Masayo Kagami ◽  
Shun Yasuda ◽  
Yasuhisa Nomura ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Paternal Uniparental Disomy

scholarly journals Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion

2020 ◽  
Vol 10 (7) ◽  
pp. 451
Author(s):  
Manuela Lo Bianco ◽  
Davide Vecchio ◽  
Tiziana A. Timpanaro ◽  
Alessia Arena ◽  
Marina Macchiaiolo ◽  
...  
Keyword(s):  
Chromosomal Rearrangement ◽  
Scientific Literature ◽  
De Novo ◽  
Congenital Defects ◽  
Phenotype Correlation ◽  
Intermediate Area ◽  
Neurodevelopmental Delay ◽  
Skeletal Malformations ◽  
Genotype Phenotype Correlation ◽  
Inverted Duplication

The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities. Patients affected also present typical facial dysmorphisms and skeletal malformations, and it is thought that the composite clinical picture may fall into the chromosomal rearrangement architecture. With the major aim of better framing its related clinical and diagnostic paths, we describe a patient carrying a de novo invdupde[8p] whose clinical features have not been described so far. Hence, through an extensive genotype–phenotype correlation analysis and by reviewing the dedicated scientific literature, we compared our patient’s features with those reported in other patients, which allows us to place our proband’s expressiveness in an intermediate area, widening the scope of the already known invdupde[8p] genotype–phenotype relationship.

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