According to investigators, in such patients, characteristic clinical features and affected organs do not substantially differ from those seen with trisomy 9 mosaicism.
#MOSAIC MEAN FULL#
In addition, rare cases have also been reported in which all body cells have appeared to be trisomic for all of chromosome 9 such “nonmosaic” cases are sometimes referred to as full trisomy 9 syndrome. The range and severity of associated features may be variable, depending on the percentage of cells in the body with an extra chromosome 9 (trisomic cells). Intellectual disability is common and varies in severity.Īs noted above, mosaic trisomy 9 is characterized by an extra 9th chromosome (trisomy 9) in some cells of the body (mosaicism). The syndrome may also be characterized by musculoskeletal, genital, kidney (renal), and/or additional physical anomalies.
However, common features include growth deficiency before birth (intrauterine growth restriction or IUGR) structural malformations of the heart that are present at birth (congenital heart defects) and/or distinctive differences in the shape of the skull and facial (craniofacial) region, such as a sloping forehead, a bulbous nose, short eyelid folds (palpebral fissures), deeply set eyes, and/or low-set ears. Mosaic Trisomy 9 may be caused by errors during the division of a parent’s egg or sperm or during the division of body tissue cells (somatic cells) early in the development of the fetus.Īssociated symptoms and findings may vary greatly in range and severity, depending on the percentage of cells with the extra chromosome.
The term “mosaic” indicates that some cells contain the extra chromosome 9, while others have the typical chromosomal pair. Mosaic trisomy 9 is a rare chromosomal disorder in which the entire 9th chromosome appears three times (trisomy) rather than twice in some cells of the body. 5 Myths About Orphan Drugs and the Orphan Drug Act.Information on Clinical Trials and Research Studies.
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