10q26 deletion

Autosomal dominant - en.svg 10q26 deletion has an autosomal dominant inheritance pattern. Medical genetics 10q26 deletion is an extremely rare genetic syndrome caused by terminal deletion of the long arm of chromosome 10 at 10q26.Chang Yu-Tzu Chou I-Ching Wang Chung-Hsing Chin Zheng-Nan Kuo Huang-Tsung Lin Chyi-Chyang Tsai Chang-Hai Tsai Fuu-Jen Chromosome 10q Deletion del (10)(q26.1q26.3) is Associated with Cataract Pediatrics & Neonatology April 2013 54 2 132–136 10.1016/j.pedneo.2012.10.010 free 23590959 It is usually a de novo mutation. Symptoms can include delayed growth, intellectual disability, 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, and destructive tendencies.Jean-Pierre Fryns, Tshilobo Prosper Lukusa Encyclopedia of Life Sciences 9 September 2005 Wiley 978-0-470-01617-6 1 https://onlinelibrary.wiley.com/doi/full/10.1038/npg.els.0005545 en Monosomies 10.1038/npg.els.0005545 People with the syndrome are less likely to have hearing deficits compared to those where the missing genetic material includes 10q25.Chang Yu-Tzu Chou I-Ching Wang Chung-Hsing Chin Zheng-Nan Kuo Huang-Tsung Lin Chyi-Chyang Tsai Chang-Hai Tsai Fuu-Jen Chromosome 10q Deletion del (10)(q26.1q26.3) is Associated with Cataract Pediatrics & Neonatology 1 April 2013 54 2 132–136 10.1016/j.pedneo.2012.10.010 1875-9572 free 23590959 The syndrome was first reported in 1979.Turleau Catherine de Grouchy J. Ponsot G. Bouygues D. Monosomy 10 qter Human Genetics January 1979 47 3 233–237 10.1007/BF00321014 457112 32976833 Interstitial deletions including parts of 10q26 also have been reported, but they are more rare. Signs and symptoms Individuals who have 10q26 deletion syndrome frequently experience delays in speech and the development of motor abilities, including sitting, crawling, and walking. Some people never speak well at all. ADHD, impulsivity, seizures, or autistic traits that interfere with social interaction and communication can all be symptoms of the condition.10q26 deletion syndrome: MedlinePlus Genetics MedlinePlus 2019-09-01 https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome/ 2024-02-23 Those who have 10q26 deletion syndrome may have a broad nasal bridge, a prominent or beaked nose, micrognathia, low-set deformed ears, a thin upper lip, and microcephaly. Many of the afflicted people have strabismus and hypertelorism. This illness can cause some people to develop webbed necks. 10q26 deletion syndrome may present with less typical indications and symptoms. Scoliosis, clinodactyly, and restricted range of motion in the elbows and other joints are examples of skeletal issues. In affected individuals, slow growth can also occur both before and after birth. Men who suffer from this illness may develop hypopadias, cryptorchidism, or a micropenis, among other genital abnormalities. Affected individuals with 10q26 deletion syndrome may also experience breathing difficulties, heart deformities, renal abnormalities, recurring infections, hearing, or visual issues. Causes A person who has a 10q26 deletion syndrome lacks 3.5–17 million base pairs, or 3.5–17 megabases (Mb), from location q26 on chromosome 10. This abnormality is inherited in an autosomal dominant manner, which means that one copy of the mutated chromosome in each cell is enough to cause the ailment. References Further reading Li Qinghong Sun Chunmei Guo Jinzhen Zhai Wen Zhang Liping Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review Molecular Cytogenetics 14 1 2021 36 1755-8166 34256807 8278754 10.1186/s13039-021-00554-1 free none Lin Shaobin Zhou Yi Fang Qun Wu Jianzhu Zhang Zhiqiang Ji Yuanjun Luo Yanmin Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature Molecular Medicine Reports Spandidos Publications 14 6 2016-10-19 1791-2997 10.3892/mmr.2016.5864 5134–5140 27779662 5355737 none External links LD44.A Q93.89 609625 C567182 Q124031724 Category:1979 in medicine Category:Autosomal monosomies and deletions