Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings

2021 ◽  
Author(s):  
Maud Blanluet ◽  
Sandra Chantot‐Bastaraud ◽  
Pascal Chambon ◽  
Kévin Cassinari ◽  
Gabriella Vera ◽  
...  
Keyword(s):  
Unbalanced Translocation ◽  
Uniparental Isodisomy

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

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

Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23.1)): case report and review of terminal 8p deletions

2004 ◽  
Vol 47 (2) ◽  
pp. 191-197 ◽  
Author(s):  
K. Bosse ◽  
T. Eggermann ◽  
K. Van der Ven ◽  
R. Raff ◽  
H. Engels ◽  
...  
Keyword(s):  
Case Report ◽  
Unbalanced Translocation

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

scholarly journals Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11

2016 ◽  
Vol 25 (7) ◽  
pp. 1406-1419 ◽  
Author(s):  
Yasufumi Ohtsuka ◽  
Ken Higashimoto ◽  
Takehiko Oka ◽  
Hitomi Yatsuki ◽  
Kosuke Jozaki ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Mitotic Recombination ◽  
Chromosome 11 ◽  
Uniparental Isodisomy ◽  
Consensus Motifs

Toriello-Carey syndrome and unbalanced translocation t(8;18)(p12;q22)

2004 ◽  
Vol 128A (2) ◽  
pp. 219-221 ◽  
Author(s):  
T. Martin-Denavit ◽  
M. Till ◽  
H. Plauchu
Keyword(s):  
Unbalanced Translocation
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