Risk of Mosaicism and Uniparental Disomy Associated with the Prenatal Diagnosis of a Non-Homologous Robertsonian Translocation Carrier

2004 ◽  
Vol 19 (5) ◽  
pp. 399-403 ◽  
Author(s):  
H. Bruyère ◽  
R.D. Wilson ◽  
S. Langlois
Keyword(s):  
Prenatal Diagnosis ◽  
Robertsonian Translocation ◽  
Uniparental Disomy ◽  
Translocation Carrier

scholarly journals Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

2019 ◽  
Vol 39 (11) ◽  
pp. 986-992
Author(s):  
Kamran Moradkhani ◽  
Laurence Cuisset ◽  
Pierre Boisseau ◽  
Olivier Pichon ◽  
Marine Lebrun ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Robertsonian Translocation ◽  
Risk Estimation ◽  
Uniparental Disomy ◽  
Chromosome 14

scholarly journals Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Lili Zhou ◽  
Zhaoke Zheng ◽  
Yunzhi Xu ◽  
Xiaoxiao Lv ◽  
Chenyang Xu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Correct Diagnosis ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Rescue Mechanism

Abstract Background The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This study involved a retrospective analysis of 4512 prenatal diagnosis samples and explored the molecular characteristics and prenatal phenotypes of UPD using a single nucleotide polymorphism (SNP) array. Results Out of the 4512 samples, a total of seven cases of UPD were detected with an overall frequency of 0.16%. Among the seven cases of UPD, two cases are associated with chromosomal aberrations (2/7), four cases (4/7) had abnormal ultrasonographic findings. One case presented with iso-UPD (14), and two case presented with mixed hetero/iso-UPD (15), which were confirmed by Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) as maternal UPD (15) associated with Prader-Willi syndrome (PWS). Four cases had iso-UPD for chromosome 1, 3, 14, and 16, respectively; this is consistent with the monosomy rescue mechanism. Another three cases presented with mixed hetero/isodisomy were consistent with a trisomy rescue mechanism. Conclusion The prenatal phenotypes of UPD are variable and molecular analysis is essential for making a correct diagnosis and genetic counselling of UPD. The SNP array is a useful genetic test in prenatal diagnosis cases with UPD.

Search for uniparental disomy 14 in balanced Robertsonian translocation carriers

1999 ◽  
Vol 56 (6) ◽  
pp. 464-466 ◽  
Author(s):  
Thomas Eggermann ◽  
Michael Wolf ◽  
Christina Spaich ◽  
Gökhan Uyanik ◽  
Gerhard Wolff ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
Uniparental Disomy ◽  
Uniparental Disomy 14

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.

Uniparental disomy testing in robertsonian translocation carriers

2018 ◽  
Vol 36 ◽  
pp. e39-e40
Author(s):  
Marie Trková ◽  
Inna Soldátová ◽  
Martina Sekowská ◽  
Věra Bečvářová ◽  
Jana Hodačová ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
Uniparental Disomy
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