Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency

1998 ◽  
Vol 63 (4) ◽  
pp. 254-262 ◽  
Author(s):  
Eleanor M. Coughlin ◽  
Ernst Christensen ◽  
Pamela L. Kunz ◽  
K.S. Krishnamoorthy ◽  
Valerie Walker ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Fumarase Deficiency

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.

Prenatal diagnosis of two rarede novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis

10.1002/pd.79 ◽  
2001 ◽  
Vol 21 (6) ◽  
pp. 484-487 ◽  
Author(s):  
Voula Velissariou ◽  
Thalia Antoniadi ◽  
Philippos Patsalis ◽  
Stavroula Christopoulou ◽  
Athina Hatzipouliou ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Y Chromosome ◽  
Molecular Analysis ◽  
Structural Aberrations

First prenatal diagnosis for Wolfram syndrome by molecular analysis of theWFS1gene

2004 ◽  
Vol 24 (10) ◽  
pp. 787-789 ◽  
Author(s):  
Enric Domènech ◽  
Helena Kruyer ◽  
Carolina Gómez ◽  
Maria Teresa Calvo ◽  
Virginia Nunes
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Wolfram Syndrome

scholarly journals Prenatal Diagnosis and Molecular Analysis of Trisomy 13 Mosaicism

2009 ◽  
Vol 48 (3) ◽  
pp. 321-322 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Fuu-Jen Tsai ◽  
Hung-Hung Lin ◽  
Chen-Wen Pan ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Trisomy 13

Prenatal Diagnosis and Molecular Analysis of a Large Novel Deletion (– –JS) Causing α0-Thalassemia

Hemoglobin ◽  
2017 ◽  
Vol 41 (4-6) ◽  
pp. 243-247 ◽  
Author(s):  
Jinru Cao ◽  
Shuzhen He ◽  
Yudong Pu ◽  
Jingjing Liu ◽  
Fuping Liu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Analysis

Prenatal Diagnosis of Hypochondroplasia: Three-Dimensional Multislice Computed Tomography Findings and Molecular Analysis

2005 ◽  
Vol 21 (1) ◽  
pp. 18-21 ◽  
Author(s):  
O. Bonnefoy ◽  
J.M. Delbosc ◽  
B. Maugey-Laulom ◽  
D. Lacombe ◽  
D. Gaye ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Multislice Computed Tomography ◽  
Three Dimensional

Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency

2002 ◽  
Vol 22 (1) ◽  
pp. 38-41 ◽  
Author(s):  
B. C. Paton ◽  
P. B. Solly ◽  
P. V. Nelson ◽  
A. N. Pollard ◽  
P. C. Sharp ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Genomic Dna ◽  
Protein Deficiency ◽  
Bifunctional Protein
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