Physical and genetic: Down's syndrome is a genetic disorder having one too many of the 21 chromosome. Most are detected on the triple screen, followed by genetic testing on amniocentesis. However, there are physical signs to look for: a single palmar crease, very weak musculature, distinct facial features, and heart defects. There are other smaller signs. There will be developmental delay, and other health issues later.
Answered 10/20/2012
6.6k views
Doc should recognise: Down syndrome is one of the most recognizable patterns of any chromosome defect & one that most doctors can recognize. There are a variety of internet sites with lists of features. If you have concerns you should share them with your physician.
Answered 12/9/2012
5.4k views
Before/after birth ?: There are a variety of screening or confirmatory tests that can be done during pregnancy. After birth, many physical features are suggestive of the diagnosis, but the physician involved would order a chromosome test to confirm or exclude the issue.Over the years,some had signs so mild many would miss the diagnosis.Others looked so different I didn't believe it.
Answered 1/17/2018
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