41 top medical experts on Chromosome 10q duplication syndrome across 4 countries and 3 U.S. states. This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Chromosome 10q duplication syndrome: Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Synonyms: 10q Partial trisomy, 10q duplication syndrome, Partial trisomy 10q, Trisomy 10q
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