Mosaic trisomy 5

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Synonyms: Mosaic trisomy chromosome 5 | Trisomy 5 mosaicism

Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation congenital heart anomalies (mainly ventricular septal defect) multiple dysmorphic features (e.g. hypertelorism prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm agenesis of corpus callosum cloverleaf skull clinodactyly anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Mosaic trisomy 5?

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Clinical Trials

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