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13: Trisomy 13
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Trisomy 13 is a serious chromosome abnormality that affects approximately 1 in every 5000 newborns. The cause of this condition was first described by Dr Patau in 1960, which explains why it is ... referred to as Patau syndrome. A syndrome is a pattern or combination of physical, mental, and health characteristics that are usually seen together. Typically, trisomy 13 is recognizable at birth and sometimes even prior to birth due to abnormalities seen on a detailed look at the fetus with ultrasound. There are many physical signs that may be associated with trisomy 13, although no one will have all of these features. The combination of features simply helps to make a diagnosis.1
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Polydactyly - an infant's hand Trisomy 13 occurs in about 1 out of every 10,000 newborns. Most cases are not passed down through families (inherited). Instead, the events that lead to Trisomy 13 occur in either the sperm or the egg that forms the fetus.
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Trisomy 13 occurs when each cell in the body has three copies of chromosome 13 instead of the usual two copies. Trisomy 13 can ... result from an extra copy of chromosome 13 in only some of the body's cells (mosaic trisomy 13).
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Trisomy 13 is caused by the presence of an extra copy of chromosome 13 in the cells of the body. Typically, individuals have 46 chromosomes (23 pairs) in each cell with two copies of chromosome number 1, two copies of chromosome number 2, etc. The 23rd pair determines sex so that males usually have one X and one Y chromosome and females usually have two X chromosomes. Most individuals with trisomy 13 have three copies of this chromosome in each cell, and this form of trisomy 13 is typically not inherited.
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This is an amazing site where families through their own grief and pain, reach out to help others on this very unique journey with Trisomy 13. All these families have lived and are living with a trisomy 13 diagnosis and the reality of how it changes lives. With Courage, Grace, and Hope they continue on.
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