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[5] [17] Likewise, a loss of the Y chromosome can result in XY/X mosaic males. [18] An example of this is one of the milder forms of Klinefelter syndrome, called 46,XY/47,XXY mosaic wherein some of the patient's cells contain XY chromosomes, and some contain XXY chromosomes. The 46/47 annotation indicates that the XY cells have the normal ...
Bronchiolitis obliterans results in worsening shortness of breath, wheezing, and a dry cough.The symptoms can start gradually, or severe symptoms can occur suddenly. [9] [10] These symptoms represent an obstructive pattern that is non-reversible with bronchodilator therapy, and need to be related to various lung insults. [11]
In genetics, attenuation is a regulatory mechanism for some bacterial operons that results in premature termination of transcription. The canonical example of attenuation used in many introductory genetics textbooks, [ 1 ] is ribosome-mediated attenuation of the trp operon .
Germline mosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells; conversely, somatic mosaicism is a type of genetic mosaicism found in somatic cells.
Obstetrics and gynaecology, endocrinology, medical genetics 45,X/46,XY mosaicism , also known as X0/XY mosaicism and mixed gonadal dysgenesis , [ 1 ] is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome .
Complete trisomy 8 causes severe abnormalities in the developing fetus and can be a cause of miscarriage. [2] [3] Complete trisomy 8 is usually a gestational lethal condition, whereas trisomy 8 mosaicism is less severe and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay. [4]
A pleural effusion is accumulation of excessive fluid in the pleural space, the potential space that surrounds each lung.Under normal conditions, pleural fluid is secreted by the parietal pleural capillaries at a rate of 0.6 millilitre per kilogram weight per hour, and is cleared by lymphatic absorption leaving behind only 5–15 millilitres of fluid, which helps to maintain a functional ...
Pulmonary alveolar proteinosis (PAP) is a rare lung disorder characterized by an abnormal accumulation of surfactant-derived lipoprotein compounds within the alveoli of the lung. The accumulated substances interfere with the normal gas exchange and expansion of the lungs, ultimately leading to difficulty breathing and a predisposition to ...