scholarly journals Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with Pycnodysostosis

1998 ◽  
Vol 62 (4) ◽  
pp. 848-854 ◽  
Author(s):  
Bruce D. Gelb ◽  
Judith P. Willner ◽  
Teresa M. Dunn ◽  
Nataline B. Kardon ◽  
Alain Verloes ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Paternal Uniparental Disomy

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.

scholarly journals Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 172
Author(s):  
Sanaa Choufani ◽  
Jung Min Ko ◽  
Youliang Lou ◽  
Cheryl Shuman ◽  
Leona Fishman ◽  
...  
Keyword(s):  
Snp Array ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Single Individual ◽  
Imprinting Disorders ◽  
Chromosome 20 ◽  
First Case ◽  
Entire Chromosome ◽  
Paternal Uniparental Disomy ◽  
Chromosome 11P15.5

Epigenetic alterations at imprinted genes on different chromosomes have been linked to several imprinting disorders (IDs) such as Beckwith-Wiedemann syndrome (BWS) and pseudohypoparathyroidism type 1b (PHP1b). Here, we present a male patient with these two distinct IDs caused by two independent mechanisms-loss of methylation (LOM) at chromosome 11p15.5 associated with multi-locus imprinting disturbances (MLID and paternal uniparental disomy of chromosome 20 (patUPD20). A clinical diagnosis of BWS was made based on the clinical features of macrosomia, macroglossia, and umbilical hernia. The diagnosis of PHP1b was supported by the presence of reduced growth velocity and mild learning disability as well as hypocalcemia and hyperphosphatemia at 14 years of age. Molecular analyses, including genome-wide DNA methylation (Illumina 450k array), bisulfite pyrosequencing, single nucleotide polymorphism (SNP) array and microsatellite analysis, demonstrated loss of methylation (LOM) at IC2 on chromosome 11p15.5, and paternal isodisomy of the entire chromosome 20. In addition, imprinting disturbances were noted at the differentially methylated regions (DMRs) associated with DIRAS3 on chromosome 1 and PLAGL1 on chromosome 6. This is the first case report of PHP1b due to patUPD20 diagnosed in a BWS patient with LOM at IC2 demonstrating etiologic heterogeneity for multiple imprinting disorders in a single individual.

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

2017 ◽  
Vol 39 (2) ◽  
pp. 182-183 ◽  
Author(s):  
Lorena Travaglini ◽  
Chiara Aiello ◽  
Viola Alesi ◽  
Sara Loddo ◽  
Antonio Novelli ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Ceroid Lipofuscinosis ◽  
Recessive Mutations

scholarly journals Maternal Uniparental Disomy of Chromosome 1 with No Apparent Phenotypic Effects

1998 ◽  
Vol 63 (4) ◽  
pp. 1216-1220 ◽  
Author(s):  
L. Leigh Field ◽  
Rose Tobias ◽  
Wendy P. Robinson ◽  
Richard Paisey ◽  
Stephen Bain
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Maternal 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.

Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy

2015 ◽  
Vol 29 (4) ◽  
pp. 178-182
Author(s):  
Francesco Nicita ◽  
Giacomo Garone ◽  
Laura Papetti ◽  
Federica Consoli ◽  
Monia Magliozzi ◽  
...  
Keyword(s):  
Angelman Syndrome ◽  
Uniparental Disomy ◽  
Paternal Uniparental Disomy

Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus

1999 ◽  
Vol 134 (1) ◽  
pp. 42-46 ◽  
Author(s):  
Susan L. Christian ◽  
Barry H. Rich ◽  
Charli Loebl ◽  
Jeannette Israel ◽  
Rohitkumar Vasa ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Genetic Testing ◽  
Uniparental Disomy ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Chromosome 6 ◽  
Paternal Uniparental Disomy
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