- Patau syndrome
- Chromosome 13, trisomy 13 complete
- Complete trisomy 13 syndrome
- D trisomy syndrome (formerly)
Your QuestionAre there treatments for trisomy 13? What is the prognosis? What is life like for those who have this condition?
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Other features or trisomy 13 may include:
- Clenched hands (with outer fingers on top of the inner fingers)
- Close-set eyes
- Hernias: umbilical hernia, inguinal hernia
- A hole, split, or cleft in the iris of the eye (coloboma)
- Low-set ears
- Scalp defects such as missing skin
- Single palmar crease
- Skeletal (limb) abnormalities
- Small head (microcephaly)
- Small lower jaw (micrognathia)
- Undescended testicle (cryptorchidism)
Trisomy 13 can also occur when part of chromosome 13 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal development. Affected people have two normal copies of chromosome 13, plus an extra copy of chromosome 13 attached to another chromosome. In rare cases, only part of chromosome 13 is present in three copies. The physical signs and symptoms in these cases may be different than those found in full trisomy 13.
A small percentage of people with trisomy 13 have an extra copy of chromosome 13 in only some of the body's cells. In these people, the condition is called mosaic trisomy 13. The severity of mosaic trisomy 13 depends on the type and number of cells that have the extra chromosome. The physical features of mosaic trisomy 13 are often milder than those of full trisomy 13.
- Breathing difficulty or lack of breathing (apnea)
- Feeding problems
- Heart failure
- Vision problems
People with trisomy 13 who survive infancy have severe intellectual disability and developmental delays, and are at increased risk for cancers.
- Trisomy 13 Syndrome. National Organization for Rare Disorders (NORD). 2007; http://rarediseases.org/rare-diseases/trisomy-13-syndrome/.
- Trisomy 13. Genetics Home Reference (GHR). November 2013; http://ghr.nlm.nih.gov/condition/trisomy-13.
- Haldeman-Englert C. Trisomy 13. MedlinePlus. September 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm.
- Best RG, Stallworth J. Patau Syndrome. eMedicine. 2007; http://emedicine.medscape.com/article/947706-overview. Accessed 10/13/2009.