15q overgrowth syndrome
| 15q overgrowth syndrome | |
|---|---|
| Other names | 15q26 overgrowth syndrome |
15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy syndrome.[1] The condition was first identified in a 2009 report.[2]
Signs and symptoms
Features of this condition include:[1]
- 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.[1]
References
- 1 2 3 "15q overgrowth syndrome (Concept Id: C4749920)". www.ncbi.nlm.nih.gov. Retrieved 2023-10-03.
- ↑ Tatton-Brown, Katrina; Pilz, Daniela T.; Orstavik, Karen Helene; Patton, Michael; Barber, John C. K.; Collinson, Morag N.; Maloney, Vivienne K.; Huang, Shuwen; Crolla, John A.; Marks, Karen; Ormerod, Eli; Thompson, Peter; Nawaz, Zafar; Lese-Martin, Christa; Tomkins, Susan (February 2009). "15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q". American Journal of Medical Genetics. Part A. 149A (2): 147–154. doi:10.1002/ajmg.a.32534. ISSN 1552-4833. PMID 19133692. S2CID 21971343.
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). Annals of Laboratory Medicine: 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
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