scholarly journals Non-chimerism and chimerism pseudo dicentric Y chromosome: two case reports about azoospermia and cytogenetic/molecular genetic analysis in the Chinese population

2013 ◽  
Vol 30 (4) ◽  
pp. 539-546 ◽  
Author(s):  
Ping Li ◽  
Lu Ding ◽  
Yan-Wei Sha ◽  
Yue-Qiang Song ◽  
Jin Lin ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Y Chromosome ◽  
Chinese Population ◽  
Case Reports ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis

Molecular Genetic Analysis of Population Structure of the Great Zhuz Kazakh Tribal Union Based on Y-Chromosome Polymorphism

2018 ◽  
Vol 33 (2) ◽  
pp. 91-96
Author(s):  
Y. Y. Ashirbekov ◽  
A. V. Khrunin ◽  
D. M. Botbayev ◽  
A. M. Belkozhaev ◽  
A. O. Abaildayev ◽  
...  
Keyword(s):  
Population Structure ◽  
Genetic Analysis ◽  
Y Chromosome ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Chromosome Polymorphism

Molecular genetic analysis of microdeletions of Y chromosome AZF locus

2016 ◽  
Author(s):  
A.D. Kairzhanova ◽  
◽  
D.K. Kamalova ◽  
G.D. Abisheva ◽  
A.O. Amirgazin ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Y Chromosome ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis

Molecular-genetic analysis of a rare forensic case of partial deletion of the Y-chromosome

2019 ◽  
Vol 62 (4) ◽  
pp. 19
Author(s):  
Ya. R. Timasheva ◽  
I. A. Tuktarova ◽  
L. I. Gizullina ◽  
E. Yu. Sundyrev ◽  
O. E. Mustafina
Keyword(s):  
Genetic Analysis ◽  
Y Chromosome ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Partial Deletion ◽  
Forensic Case

scholarly journals Hypopituitarism due to mutation in the PROP1 gene in association with the 47,XYY karyotype and autosomal dominant atrioventricular septal defect: two case reports

2017 ◽  
Vol 63 (3) ◽  
pp. 174-178
Author(s):  
Dilyara N. Gubaeva ◽  
Elizaveta M. Orlova ◽  
Maria S. Pankratova ◽  
Alexander V. Vorontsov ◽  
Maria А. Kareva
Keyword(s):  
Genetic Analysis ◽  
Pituitary Gland ◽  
Rare Diseases ◽  
Septal Defect ◽  
Autosomal Dominant ◽  
Case Reports ◽  
Molecular Genetic ◽  
Atrioventricular Septal Defect ◽  
Molecular Genetic Analysis ◽  
Prop1 Gene

Application of genetic analysis in clinical practice enables identifying a combination of two rare diseases in one patient. We report two cases of patients with hypopituitarism due to PROP1 gene mutations in combination with the 47,XYY karyotype (case 1) and autosomal dominant partial atrioventricular septal defect (case 2). These clinical cases clearly demonstrate that several rare diseases can be present in one patient. The morphology of the pituitary gland has specific features in patients with a PROP1 gene mutation: signal inversion on T1- and T2-weighted images, as well as changes in size of the pituitary gland over time. In case of short stature, the hormonal evidence of secondary hypopituitarism, low IGF-1 levels, and specific morphological features observed in MRI images, we recommended carrying out molecular genetic analysis of the PROP1 gene without conducting growth hormone stimulation test.

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