10q26 deletion

Medical condition

10q26 deletion is an extremely rare genetic syndrome caused by terminal deletion of the long arm of chromosome 10 at 10q26. It is usually a de novo mutation. Symptoms can include "growth and mental retardation, microcephaly, triangular face, strabismus, hypertelorism, prominent nasal bridge, beaked or prominent nose, low-set dysplastic ears, various congenital heart defects, cryptorchidism, other anogenital anomalies, defect of hands/feet, limb contractures, abnormal behavior with hyperactivity, attention deficit, destructive tendency". People with the syndrome are less likely to have hearing deficits compared to those where the missing genetic material includes 10q25. The syndrome was first reported in 1979. Interstitial deletions including parts of 10q26 also have been reported, but they are more rare.

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