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15q overgrowth syndrome
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15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy syndrome. The condition was first identified in a 2009 report.
== Signs and symptoms ==
Features of this condition include:
Facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, and prominent chin)
Overgrowth (pre- and post-natal)
Renal anomalies (horseshoe kidney, renal agenesis, and hydronephrosis)
Mild to severe learning difficulties
Behavioural anomalies
Macrocephaly and craniosynostosis may also be present.
== Causes ==
The cause of this condition is genetic but its origins are unclear. The condition may be inherited (fashion unknown) or not inherited.
== References ==
== Further reading ==
Gutiérrez-Franco, María de los Ángeles; Madariaga-Campos, María de la Luz; VÁsquez-VelÁsquez, Ana I.; Matute, Esmeralda; Guevara-YÁñez, Roberto; Rivera, Horacio (2010-06-01). "A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences". Annals of Laboratory Medicine. 30 (3): 318–324. doi:10.3343/kjlm.2010.30.3.318. ISSN 2234-3806.
Faivre, Laurence; Gosset, Philippe; Cormier-Daire, Valérie; Odent, Sylvie; Amiel, Jeanne; Giurgea, Irina; Nassogne, Marie-Cécile; Pasquier, Laurent; Munnich, Arnold; Romana, Serge; Prieur, Marguerite; Vekemans, Michel; de Blois, Marie-Christine; Turleau, Catherine (2002-10-29). "Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature". European Journal of Human Genetics. 10 (11). Springer Science and Business Media LLC: 699–706. doi:10.1038/sj.ejhg.5200879. ISSN 1018-4813.
== External links ==