What is Trisomy 13 syndrome?

Answer 1

I will try to give you something a little more useful beyond a rehashing of an online medical journal, but if you are looking for a more detailed and professional diagnosis, I suggest you seek one out.

Trisomy 13 is also known as "Patau Syndrome". Basically, every human being has two copies of each chromosome and Trisomy 13 means that this particular person has THREE copies of the 13th chromosome: Trisomy 13.

Generally people with Trisomy 13 are severely retarded and rarely live past their first year after birth. Those that do are often plagued with a deluge of problems from paraplegia, blindness, deafness, etc. and are barely functional. It is a crippling and generally lethal birth defect.

Answer 2

There are many families who have a child living with trisomy 18, trisomy 13 and other trisomy syndromes. While the literature typically does not give much hope, for those parents who've continued on, share their journey on a 2012 Family Experience Publication.

Our children are not a diagnosis: The experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18
http://onlinelibrary.wiley.com/enhanced/doi/10.1002/ajmg.a.36298/

Trisomy Support Resources for Families and Professionals caring for them.
SOFT Offers a FREE Care e-book, newletter, FREE membership and Annual Conventions. Family Stories, Surgical Data Base and more helpful resources for those caring for a trisomy chid.
SOFT Support Organization for Trisomy 18, 13 and Related Disorders http://www.trisomy.org

ITA offers wonderful FREE online booklets and the most current literature and publications on Trisomy Research.
ITA International Trisomy Alliance http://www.internationaltrisomyalliance.com

TRIS Tracking Rare Incidence Syndromes project http://www.coehs.siu.edu/tris

Natalia’s story http://trisomy.org/?our-story=natalia-marie

Answer 3

Trisomy 13 Syndrome is a rare chromosomal disorder in which all or a portion of chromosome 13 appears three times (trisomy) rather than twice in cells of the body. In some affected individuals, only a percentage of cells may contain the extra 13th chromosome (mosaicism), whereas other cells contain the normal chromosomal pair.

In individuals with Trisomy 13 Syndrome, the range and severity of associated symptoms and findings may depend on the specific location of the duplicated (trisomic) portion of chromosome 1, as well as the percentage of cells containing the abnormality. However, in many affected infants and children, such abnormalities may include developmental delays, profound mental retardation, unusually small eyes (microphthalmia), an abnormal groove in the upper lip (cleft lip), incomplete closure of the roof of the mouth (cleft palate), undescended testes (cryptorchidism) in affected males, and extra (supernumerary) fingers and toes (polydactyly). Additional malformations of the head and facial (craniofacial) area may also be present, such as a relatively small head (microcephaly) with a sloping forehead; a broad, flat nose; widely set eyes (ocular hypertelorism); vertical skin folds covering the eyes; inner corners (epicanthal folds); scalp defects; and malformed, low-set ears. Affected infants may also have incomplete development of certain regions of the brain (e.g., the forebrain); kidney (renal) malformations; and structural heart (cardiac) defects at birth (congenital). For example, characteristic heart defects may include an abnormal opening in the partition dividing the upper or lower chambers of the heart (atrial or ventricular septal defects) or persistence of the fetal opening between the two major arteries (aorta, pulmonary artery) emerging from the heart (patent ductus arteriosus). Many infants with Trisomy 13 Syndrome fail to grow and gain weight at the expected rate (failure to thrive) and have severe feeding difficulties, diminished muscle tone (hypotonia), and episodes in which there is temporary cessation of spontaneous berathing (apnea). Life-threatening complications may develop during infancy or early childhood.
http://www.webmd.com/hw/health_guide_atoz/nord218.asp

Answer 4

Extremely short survival time is expected. Rarely, affected persons survive to adulthood.