Other Names for this Disease
- Chromosome 13, trisomy 13 complete
- Complete trisomy 13 syndrome
- D trisomy syndrome (formerly)
- Patau syndrome
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 -- eyes may actually fuse together into one
- Hernias: umbilical hernia, inguinal hernia
- Hole, split, or cleft in the iris (coloboma)
- Low-set ears
- Mental retardation
- Scalp defects (missing skin)
- Single palmar crease
- Skeletal (limb) abnormalities
- Small eyes
- Small head (microcephaly)
- Small lower jaw (micrognathia)
- Undescended testicle (cryptorchidism)
Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 13.
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.
Trisomy 13 involves multiple abnormalities, many of which are not compatible with life. More than 80% of children with this condition die in the first month. For those that do survive, complications are common and may include:
- Breathing difficulty or lack of breathing (apnea)
- Feeding problems
- Heart failure
- Vision problems
Individuals with trisomy 13 who survive infancy exhibit severe mental retardation and developmental delays and are at increased risk for malignancy. Individuals without severe complications are the most likely to exhibit prolonged survival. Although those who survive trisomy 13 have low educational potential, increased stimulation and interaction may help to maximize developmental potential.
- Trisomy 13 Syndrome. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Trisomy%2013%20Syndrome. Accessed 10/13/2009.
- Trisomy 13. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition=trisomy13. Accessed 10/13/2009.
- Chambers D. Trisomy 13. MedlinePlus. 2009; http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm. Accessed 10/13/2009.
- Best RG, Stallworth J. Patau Syndrome. eMedicine. 2007; http://emedicine.medscape.com/article/947706-overview. Accessed 10/13/2009.