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

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 Prenatal diagnosis of a de novo non-fluorescent Y chromosome.

1980 ◽  
Vol 17 (4) ◽  
pp. 314-316 ◽  
Author(s):  
J H Priest ◽  
A T Chen ◽  
P M Fernhoff ◽  
J A Reidy ◽  
C Whitsett
Keyword(s):  
Prenatal Diagnosis ◽  
Y Chromosome ◽  
De Novo

scholarly journals Cytogenetic and molecular analysis of the Pantaneiro cattle breed

2006 ◽  
Vol 41 (11) ◽  
pp. 1609-1615 ◽  
Author(s):  
Érica Cunha Issa ◽  
Wilham Jorge ◽  
José Robson Bezerra Sereno
Keyword(s):  
Mitochondrial Dna ◽  
Y Chromosome ◽  
Molecular Analysis ◽  
Bos Taurus ◽  
Bos Indicus ◽  
Cattle Breed ◽  
Zebu Cattle ◽  
European Origin ◽  
Paternal Line

The objective of this work was to characterize Pantaneiro cattle genetically through its paternal ancestry by the morphology of the Y chromosome, whether submetacentric or acrocentric, as well as to identify the maternal ancestry through mitochondrial DNA. The karyotype and mitochondrial DNA of 12 bulls of Pantaneiro breed were analyzed. The Y chromosome was analyzed in lymphocyte metaphases and the mitochondrial DNA by diagnosing its haplotype (Bos taurus and Bos indicus). Among Pantaneiro animals analyzed three had a taurine (submetacentric) Y and nine had a zebuine (acrocentric) Y chromosome, suggesting breed contamination by Zebu cattle, once Pantaneiro is considered to be of European origin. The mitochondrial DNA was exclusively of taurine origin, indicating that the participation of zebuines in the formation of the breed occurred entirely through the paternal line.

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

Y chromosome heterochromatin variation detected at prenatal diagnosis

2005 ◽  
Vol 25 (11) ◽  
pp. 1062-1063 ◽  
Author(s):  
Philip D. Cotter ◽  
Mary E. Norton
Keyword(s):  
Prenatal Diagnosis ◽  
Y Chromosome

The use of cloned Y chromosome-specific DNA probes for fetal sex determination in first trimester prenatal diagnosis

1984 ◽  
Vol 66 (4) ◽  
pp. 347-351 ◽  
Author(s):  
J. R. Gosden ◽  
C. M. Gosden ◽  
S. Christie ◽  
H. J. Cooke ◽  
J. M. Morsman ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Determination ◽  
Y Chromosome ◽  
First Trimester ◽  
Dna Probes ◽  
Fetal Sex

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

Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe

1989 ◽  
Vol 83 (1) ◽  
pp. 88-92 ◽  
Author(s):  
Michael A. Cantrell ◽  
James N. Bicknell ◽  
Roberta A. Pagon ◽  
David C. Page ◽  
David C. Walker ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Molecular Analysis ◽  
Specific Probe ◽  
Regional Assignment
Sign in / Sign up

Export Citation Format

Share Document