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The Simian Line and Down Syndrome |
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What is a simian line?
Many structures develop in the fetus in the first few months of gestation. Palmar creases develop early, by the 11th to 12th week of life. Abnormalities in palmar creases may indicate problems with early development and be associated with other developmental disorders like Down Syndrome. Does a simian line indicate there is a medical problem, physical or mental abnormality?NO! There are a few sever physical and mental conditions where the majority of people with that condition have one or both hands with simian lines. Therefore, most of the literature and research is done with these people. From this comes the belief that a simian line indicates an abnormality physically or mentally. However, there are many people with a simian line on one or both hands that do not have any physical or mental abnormalities. [NOTE: An informal and unscientific survey on this web site for people with one or more simian lines indicates that the majority of the surveyors do not have more than the normal physical problems. You can see the results for all questions in graphic form here.] What is the probability of a child having Down Syndrome?Dr. Aubrey Milunsky, Professor of Human Genetics, Pediatrics, Obstetrics and Gynecology and Pathology at Boston University School of Medicine makes this statement: "In general, for all women, the average likelihood of delivering a child with Down syndrome approximates 1 in 800. At age 30 the average risk is about 1 in 710. This risk can be defined more accurately when you have the routine blood test (called the maternal serum quadruple screen) usually done between 15 and 16 weeks of pregnancy." "About 94% of all children born with Down Syndrome are characterized by having an extra chromosome no. 21 (called trisomy 21 Down syndrome). About 3 or 4% of infants born with Down syndrome have a structural chromosome rearrangement involving chromosome no. 21 (called a translocation type of Down syndrome). It is this type that is potentially hereditary, the structural abnormality being transmitted by one parent to a child. Because of the possibility that this translocation type exists in your family, every effort should be made to determine the precise chromosome abnormality your fiance's uncle had. If it proves impossible to find out that result or if he had a translocation, a blood sample from your fiance should be obtained for chromosome analysis. The odds are obviously small that he will prove to be a carrier of the translocation. However, in the unlikely event he proves to be a carrier, there would be a 2-4% probability of having a child with the translocation type of Down syndrome. Early pregnancy studies via amniocentesis and chromosome analysis of fetal cells would enable timely prenatal diagnosis and almost certain reassurance that the fetus is healthy. Pregnancy termination is available in the event fetal Down syndrome is diagnosed." "Incidentally, your husband's age will not contribute to any additional risk and your age will become significant at 35." Dr. Milunsky also says this about the types of Down Syndrome: "There are three chromosome types of Down syndrome, the most common being due to an extra chromosome 21 (called trisomy 21). This type accounts for some 94% of all those born with Down syndrome. About 3-4% are born with a chromosome rearrangement involving chromosome 21 (called translocation Down syndrome), while 3-4% of babies born with Down syndrome have a mixture of normal cells and those with trisomy 21 (called Down syndrome mosaicism). You need to find out precisely which type of Down syndrome your aunt had. This would be especially important for translocation Down syndrome, since that is the type that is transmitted through the family." You can read more about Down syndrome by clicking here. The simian line appears also in these rare medical conditionsAarskog syndrome is an inherited disease characterized by short stature, facial abnormalities, musculoskeletal, and genital anomalies. The people have one or more simian crease. You can read about this rare condition here. An even more rare condition is called "cri du chat syndrome" (Cry of the Cat syndrome) The syndrome's name is based on the infant's cry, which is high pitched and sounds like a cat. The cri du chat syndrome is caused by a missing part of chromosome 5. The cause of this rare chromosomal deletion is not known. Between 1 in 20,000 and 1 in 50,000 babies are affected. Infants with cri du chat syndrome commonly have a simian line. They also have an extensive grouping of abnormalities with severe mental retardation being the most important. You can get a little more information here.
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Most human hands, in all races, have three main lines. Such lines appear on the soles of the feet also. The palm lines traditionally are called the Heart Line, Head Line, and Life Line. Medical people call these lines "flexion creases".
Sometimes, the Heart Line and Head Line fuse to form a single line. This line is called a simian line. The name "simian" was adopted many years ago and comes from the fact that some monkeys have only one crease in their palm. Medical people call it a single palmar crease or a "simian crease." Males are twice as likely as females to have this condition.