GermlineCBLmutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23

2014 ◽  
Vol 164 (4) ◽  
pp. 1003-1009 ◽  
Author(s):  
Helen L. Hanson ◽  
Meredith J. Wilson ◽  
John P. Short ◽  
Barry A. Chioza ◽  
Andrew H. Crosby ◽  
...  
Keyword(s):  
Uniparental Isodisomy ◽  
Primary Lymphedema ◽  
Chromosome 11Q23

Uniparental isodisomy as a cause of the autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome

2017 ◽  
Author(s):  
Treena Cranston ◽  
Hannah Boon ◽  
Fiona Ryan ◽  
Debbie Shears ◽  
Rajesh Thakker ◽  
...  
Keyword(s):  
Uniparental Isodisomy ◽  
Autoimmune Polyendocrinopathy

Pregnancy and feto-neonatal outcome in primary lymphedema affected woman

2019 ◽  
Vol 71 (5) ◽  
Author(s):  
Anna F. Cavaliere ◽  
Silvia Perossini ◽  
Maria C. La Milia ◽  
Annalisa Vidiri ◽  
Sandro Michelini ◽  
...  
Keyword(s):  
Neonatal Outcome ◽  
Primary Lymphedema ◽  
Affected Woman

scholarly journals Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia

2021 ◽  
Vol 22 (15) ◽  
pp. 7842
Author(s):  
Susanne Kohl ◽  
Britta Baumann ◽  
Francesca Dassie ◽  
Anja K. Mayer ◽  
Maria Solaki ◽  
...  
Keyword(s):  
Segregation Analysis ◽  
Molecular Genetic ◽  
Retinal Disease ◽  
Underlying Mechanism ◽  
Recurrence Risk ◽  
Molecular Genetic Analysis ◽  
Recessive Mutation ◽  
Chromosome 2 ◽  
Inherited Retinal Disease ◽  
Uniparental Isodisomy

Achromatopsia (ACHM) is a rare autosomal recessively inherited retinal disease characterized by congenital photophobia, nystagmus, low visual acuity, and absence of color vision. ACHM is genetically heterogeneous and can be caused by biallelic mutations in the genes CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, or ATF6. We undertook molecular genetic analysis in a single female patient with a clinical diagnosis of ACHM and identified the homozygous variant c.778G>C;p.(D260H) in the CNGA3 gene. While segregation analysis in the father, as expected, identified the CNGA3 variant in a heterozygous state, it could not be displayed in the mother. Microsatellite marker analysis provided evidence that the homozygosity of the CNGA3 variant is due to partial or complete paternal uniparental isodisomy (UPD) of chromosome 2 in the patient. Apart from the ACHM phenotype, the patient was clinically unsuspicious and healthy. This is one of few examples proving UPD as the underlying mechanism for the clinical manifestation of a recessive mutation in a patient with inherited retinal disease. It also highlights the importance of segregation analysis in both parents of a given patient or especially in cases of homozygous recessive mutations, as UPD has significant implications for genetic counseling with a very low recurrence risk assessment in such families.

Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis

2021 ◽  
pp. 1-8
Author(s):  
Fabiana Louise Motta ◽  
Rafael Filippelli-Silva ◽  
Joao Paulo Kitajima ◽  
Denise A. Batista ◽  
Elizabeth S. Wohler ◽  
...  
Keyword(s):  
Chromosome 1 ◽  
Leber Congenital Amaurosis ◽  
Uniparental Isodisomy

scholarly journals LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

2018 ◽  
Vol 9 ◽  
Author(s):  
Pere Soler-Palacín ◽  
Marina Garcia-Prat ◽  
Andrea Martín-Nalda ◽  
Clara Franco-Jarava ◽  
Jacques G. Rivière ◽  
...  
Keyword(s):  
Homozygous Mutation ◽  
Chromosome 4 ◽  
Uniparental Isodisomy ◽  
Lrba Deficiency

Natural History of Primary Lymphedema of the Legs

Pathobiology ◽  
1975 ◽  
Vol 43 (2-3) ◽  
pp. 230-234 ◽  
Author(s):  
U. Brunner
Keyword(s):  
Natural History ◽  
Primary Lymphedema ◽  
History Of
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