scholarly journals X chromosome copy number variants: incidental ECS findings and the importance of clarifying reproductive risks

2022 ◽  
Vol 226 (1) ◽  
pp. S571
Author(s):  
Julia Wilkinson ◽  
Allie Carrasquedo ◽  
Sarah Grams ◽  
Melissa Strassberg ◽  
Sarah Poll ◽  
...  
Keyword(s):  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variants ◽  
Chromosome Copy Number

scholarly journals Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

2010 ◽  
Vol 87 (2) ◽  
pp. 173-188 ◽  
Author(s):  
Annabel C. Whibley ◽  
Vincent Plagnol ◽  
Patrick S. Tarpey ◽  
Fatima Abidi ◽  
Tod Fullston ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variants ◽  
Fine Scale ◽  
Chromosome Copy Number

Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants

2012 ◽  
Vol 55 (11) ◽  
pp. 577-585 ◽  
Author(s):  
M. Isrie ◽  
G. Froyen ◽  
K. Devriendt ◽  
T. de Ravel ◽  
J.P. Fryns ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variants ◽  
Chromosome Copy Number ◽  
Male Patients

Copy number variants on the X chromosome in women with primary ovarian insufficiency

2011 ◽  
Vol 95 (5) ◽  
pp. 1584-1588.e1 ◽  
Author(s):  
Erik A.H. Knauff ◽  
Hylke M. Blauw ◽  
Peter L. Pearson ◽  
Klaas Kok ◽  
Cisca Wijmenga ◽  
...  
Keyword(s):  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variants ◽  
Primary Ovarian Insufficiency ◽  
Ovarian Insufficiency

scholarly journals THE EFFECT OF X-CHROMOSOME COPY NUMBER ON BLASTULATION TIME IN EMBRYOS WITH SEX CHROMOSOME ANEUPLOIDIES

2021 ◽  
Vol 116 (3) ◽  
pp. e149-e150
Author(s):  
Ann Korkidakis ◽  
Abigail Groff ◽  
Jaimin S. Shah ◽  
Angela Q. Leung ◽  
Alan S. Penzias ◽  
...  
Keyword(s):  
X Chromosome ◽  
Copy Number ◽  
Sex Chromosome ◽  
Chromosome Copy Number ◽  
Sex Chromosome Aneuploidies

Chromosome copy number variants in fetuses with syndromic malformations

2017 ◽  
Vol 109 (10) ◽  
pp. 725-733 ◽  
Author(s):  
Huilin Wang ◽  
Matthew Hoi Kin Chau ◽  
Ye Cao ◽  
Ka Yin Kwok ◽  
Kwong Wai Choy
Keyword(s):  
Copy Number ◽  
Copy Number Variants ◽  
Chromosome Copy Number

scholarly journals Rare copy number variants in the genome of Chinese female children and adolescents with Turner syndrome

2019 ◽  
Vol 39 (1) ◽  
Author(s):  
Li Li ◽  
Qingfeng Li ◽  
Qiong Wang ◽  
Li Liu ◽  
Ru Li ◽  
...  
Keyword(s):  
Healthy Volunteer ◽  
Turner Syndrome ◽  
Quantitative Pcr ◽  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variants ◽  
Comparative Genomic ◽  
Chromosome Loss ◽  
Rare Cnvs ◽  
Bone Mineral Status

AbstractTurner syndrome (TS) is a congenital disease caused by complete or partial loss of one X chromosome. Low bone mineral status is a major phenotypic characteristic of TS that can not be fully explained by X chromosome loss, suggesting other autosomal-linked mutations may also exist. Therefore, the present study aimed to detect potential genetic mutations in TS through examination of copy number variation (CNV). Seventeen patients with TS and 15 healthy volunteer girls were recruited. Array-based comparative genomic hybridization (a-CGH) was performed on whole blood genomic DNA (gDMA) from the 17 TS patients and 15 healthy volunteer girls to identify potential CNVs. The abnormal CNV of one identified gene (CARD11) was verified by quantitative PCR. All cases diagnosed had TS based on genotype examination and physical characteristics, including short stature and premature ovarian failure. Three rare CNVs, located individually at 7p22.3, 7p22.2, and Xp22.33, where six genes (TTYH3, AMZ1, GNA12, BC038729, CARD11, and SHOX (stature homeobox)) are located, were found in TS patients. Quantitative PCR confirmed the CNV of CARD11 in the genome of TS patients. Our results indicate that CARD11 gene is one of the mutated genes involved in TS disease. However, this CNV is rare and its contribution to TS phenotype requires further study.

scholarly journals X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

BMC Genomics ◽  
2007 ◽  
Vol 8 (1) ◽  
pp. 443 ◽  
Author(s):  
I Madrigal ◽  
L Rodríguez-Revenga ◽  
L Armengol ◽  
E González ◽  
B Rodriguez ◽  
...  
Keyword(s):  
Mental Retardation ◽  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variants ◽  
Chromosome X ◽  
Array Detection
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