Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation

2006 ◽  
Vol 26 (4) ◽  
pp. 303-307 ◽  
Author(s):  
Lisa G. Shaffer
Keyword(s):  
Robertsonian Translocation ◽  
Uniparental Disomy ◽  
Prenatal Detection ◽  
Risk Estimates

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

scholarly journals Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation

2017 ◽  
Vol 8 (3) ◽  
pp. 131-138 ◽  
Author(s):  
Veronica Bertini ◽  
Antonella Fogli ◽  
Rossella Bruno ◽  
Alessia Azzarà ◽  
Angela Michelucci ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
Uniparental Disomy ◽  
Maternal Uniparental Disomy ◽  
Temple Syndrome ◽  
Maternal Uniparental Disomy 14 ◽  
Uniparental Disomy 14

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 detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome

2018 ◽  
Vol 93 (6) ◽  
pp. 1248-1249 ◽  
Author(s):  
W. Shen ◽  
B.A. Young ◽  
M. Bosworth ◽  
K.E. Wright ◽  
A.N. Lamb ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Pathogenic Variant ◽  
Chromosome 2 ◽  
Prenatal Detection ◽  
Multiple Pterygium Syndrome

Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy Rescue

2018 ◽  
Vol 156 (1) ◽  
pp. 9-13 ◽  
Author(s):  
Nuria C. Bramswig ◽  
Karin Buiting ◽  
Natalie Bechtel ◽  
Bernhard Horsthemke ◽  
Kevin Rostasy ◽  
...  
Keyword(s):  
Angelman Syndrome ◽  
Robertsonian Translocation ◽  
Chromosome Region ◽  
Neurodevelopmental Disorder ◽  
Uniparental Disomy ◽  
Normal Karyotype ◽  
Early Embryo ◽  
Affected Individual ◽  
Chromosome 15 ◽  
Paternal Uniparental Disomy

Angelman syndrome (AS) is a neurodevelopmental disorder caused by deletion of the maternally inherited 15q11q13 region, paternal uniparental disomy 15 [upd(15)pat], an imprinting defect of the maternal chromosome region 15q11q13, or a pathogenic mutation of the maternal UBE3A allele. Predisposing factors for upd(15)pat, such as nonhomologous robertsonian translocation involving chromosome 15, have been discussed, but no evidence for this predisposition has been published. In the present study, chromosomal analysis was performed in a child with AS, both parents, and the maternal grandparents. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was employed on DNA of the index individual, and microsatellite analysis was carried out on DNA of the index individual and his parents. The cytogenetic analysis showed that the mother and maternal grandfather are carriers of a rob(14;15). The index individual has a numerically normal karyotype, but MS-MLPA and microsatellite analyses confirmed the clinical diagnosis of AS and revealed a pattern highly suggestive of isodisomic upd(15)pat. This is the first report of an AS-affected individual with isodisomic upd(15)pat and a numerically normal karyotype that most likely results from a rob(14;15)-associated meiotic error in the maternal germline followed by monosomy 15 rescue in the early embryo.

scholarly journals Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1454
Author(s):  
Thomas Eggermann
Keyword(s):  
Genetic Counselling ◽  
Ethical Issues ◽  
Current Knowledge ◽  
Incidental Finding ◽  
Uniparental Disomy ◽  
Prenatal Testing ◽  
Prenatal Detection ◽  
Conventional Tests ◽  
Clinical Consequences ◽  
Chromosomal Variants

Prenatal detection of uniparental disomy (UPD) is a methodological challenge, and a positive testing result requires comprehensive considerations on the clinical consequences as well as ethical issues. Whereas prenatal testing for UPD in families which are prone to UPD formation (e.g., in case of chromosomal variants, imprinting disorders) is often embedded in genetic counselling, the incidental identification of UPD is often more difficult to manage. With the increasing application of high-resolution test systems enabling the identification of UPD, an increase in pregnancies with incidental detection of UPD can be expected. This paper will cover the current knowledge on uniparental disomies, their clinical consequences with focus on prenatal testing, genetic aspects and predispositions, genetic counselling, as well as methods (conventional tests and high-throughput assays).

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
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