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
[edit]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
[edit]The cause of this condition is genetic but its origins are unclear. The condition may be inherited (fashion unknown) or not inherited.[1]
References
[edit]- ^ a b c "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
[edit]- 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.