10q26 deletion
10q26 deletion is an extremely rare genetic syndrome caused by terminal deletion of the long arm of chromosome 10 at 10q26.[1] 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".[2] People with the syndrome are less likely to have hearing deficits compared to those where the missing genetic material includes 10q25.[3] The syndrome was first reported in 1979.[4] Interstitial deletions including parts of 10q26 also have been reported, but they are more rare.[1]
References
- ^ a b Chang, Yu-Tzu; Chou, I-Ching; Wang, Chung-Hsing; Chin, Zheng-Nan; Kuo, Huang-Tsung; Lin, Chyi-Chyang; Tsai, Chang-Hai; Tsai, Fuu-Jen (April 2013). "Chromosome 10q Deletion del (10)(q26.1q26.3) is Associated with Cataract". Pediatrics & Neonatology. 54 (2): 132–136. doi:10.1016/j.pedneo.2012.10.010. PMID 23590959.
- ^ Jean-Pierre Fryns, Tshilobo Prosper Lukusa (9 September 2005). "Monosomies". Encyclopedia of Life Sciences (1 ed.). Wiley. doi:10.1038/npg.els.0005545. ISBN 978-0-470-01617-6.
- ^ Chang, Yu-Tzu; Chou, I-Ching; Wang, Chung-Hsing; Chin, Zheng-Nan; Kuo, Huang-Tsung; Lin, Chyi-Chyang; Tsai, Chang-Hai; Tsai, Fuu-Jen (1 April 2013). "Chromosome 10q Deletion del (10)(q26.1q26.3) is Associated with Cataract". Pediatrics & Neonatology. 54 (2): 132–136. doi:10.1016/j.pedneo.2012.10.010. ISSN 1875-9572. PMID 23590959.
- ^ Turleau, Catherine; de Grouchy, J.; Ponsot, G.; Bouygues, D. (January 1979). "Monosomy 10 qter". Human Genetics. 47 (3): 233–237. doi:10.1007/BF00321014. PMID 457112. S2CID 32976833.