Partial Chromosome Deletion: A New Trisomy Rescue Mechanism?

2009 ◽  
Vol 25 (1) ◽  
pp. 111-114 ◽  
Author(s):  
F. Vialard ◽  
D. Molina-Gomes ◽  
E. Quarello ◽  
B. Leroy ◽  
Y. Ville ◽  
...  
Keyword(s):  
Chromosome Deletion ◽  
Rescue Mechanism ◽  
Trisomy Rescue

scholarly journals Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl

2016 ◽  
Vol 4 (3) ◽  
pp. 265-271 ◽  
Author(s):  
Samuel Balbeur ◽  
Bernard Grisart ◽  
Benoit Parmentier ◽  
Daniel Sartenaer ◽  
Pierre‐Emmanuel Leonard ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Maternal Uniparental Disomy ◽  
Rescue Mechanism ◽  
Maternal Uniparental Disomy 14 ◽  
Uniparental Disomy 14 ◽  
Trisomy Rescue ◽  
Mosaic Trisomy

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.

Genetic and molecular evidence of an X-chromosome deletion spanning the tabby (Ta) and testicular feminization (Tfm) loci in the mouse

1991 ◽  
Vol 56 (3-4) ◽  
pp. 137-143 ◽  
Author(s):  
B.M. Cattanach ◽  
C. Rasberry ◽  
E.P. Evans ◽  
L. Dandolo ◽  
M.C. Simmler ◽  
...  
Keyword(s):  
X Chromosome ◽  
Molecular Evidence ◽  
Chromosome Deletion ◽  
Testicular Feminization

Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion

1987 ◽  
Vol 75 (3) ◽  
pp. 286-290 ◽  
Author(s):  
S. V. Hodgson ◽  
M. E. Robertson ◽  
C. N. Fear ◽  
J. Goodship ◽  
S. Malcolm ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Prenatal Diagnosis ◽  
X Chromosome ◽  
Chromosome Deletion

Receptor Activation is Not the Main Rescue Mechanism of Morphine in Peroxynitrite-Induced Death of Human Neuroblastoma SH-SY5Y Cells

2000 ◽  
Vol 39 (2) ◽  
pp. 226
Author(s):  
Yong Son ◽  
Jin Young Ahn ◽  
Yu Sun Choi ◽  
Yoon Kang Song ◽  
Jae Seung Yoon ◽  
...  
Keyword(s):  
Receptor Activation ◽  
Human Neuroblastoma ◽  
Rescue Mechanism
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