Big Time Romance ~A Big Time Rush love story~ Chap. 70

Doctor: Well, he could have a problem that caused this miscarriage, so if she wants to know, she needs to bring him in to keep it from happening again..we can get a genetic counselor to test for any chromosomal abnormalities. Tara: *stills crying* Alexa..call Kendall..get him here. Alexa calls Kendall and tells him everything. He gets there as soon as possible and they start testing. They finish testing and the doctors come to a conclusion. Doctor: Looks like…there was a chromosomal abnormality..from the sperm side..which means..this could just be a one time thing..or it could be something that happens often.. Kendall: So, that means..this was all my fault? Doctor: Well, the baby didn’t have all 23 chromosomes from the father..so in a sense..yes, but it wasn’t something you could control. Kendall: I can’t believe I’ve done this.. He walks out into the parking lot and sits against the wall of the hospital. Tara, Alexa, and Logan walk out. Tara: *sees Kendall and looks over at Alexa and Logan* You guys can go..I’ll get a ride with Kendall.. Logan: Okay..see you. They leave. Tara walks up and sits by Kendall against the wall. Tara: You didn’t do this.. Kendall: Yes, I did. Tara: Kendall..like the doctor said..it wasn’t something you could control.. Kendall: *gets up and faces her*You know what? I must be a pretty suckish husband..I get you pregnant when you didn’t want to be..I give you miscarriage when you decide you are okay with being pregnant..I suck. Tara: *stands up

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Ask The Experts About Genetic Counselors

Sharon asks…

Describe two procedures used by genetic counselors to obtain a DNA sample used for karyotyping?

describe two other techniques used to examine the developing fetus for abnormalities.

admin answers:

1 Amniocentesis.
This technique uses a large syringe to draw off some of the amniotic fluid from around the foetus. The fluid contains cells from the foetus which can be cultured in vitro. These cultured cells then have their DNA stained and photomicrographs of metaphase cells are taken. The images of the chromosomes are analysed to check for abnormalities.

2. Chorionic villus sampling
Again, a large syringe is used to sample cells from the chorionic villi (foetal tissues of the developing placenta). These cells do not require culturing but can be stained and checked straight away.

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Genetics 101 Part 3: Where do your genes come from?

Find out how chromosomes and genes are passed down from parent to child. More information about 23andMe can be found at www.23andme.com

Genetics 101 Part 1: What are genes?

Find out about the basics of cells, chromosomes, and the genes contained in your DNA. More information about 23andMe can be found at www.23andme.com

The History Behind Down Syndrome Genetics

Mike Selvon asked:




One in 1,000 American babies is born with the Down syndrome genetic condition, although it is estimated that 90% of the mothers who receive an early diagnosis choose abortion. There are many fallacies about people with Down syndrome that scare parents into making a rash decision. Most adults with Down syndrome live independently, marry, have jobs and live past their fifties nowadays.

There are many ways the genetic data of Down syndrome can be damaged or rearranged. For example, in trisomy 21, one parent has two chromosomes located at chromosome #21, rather than one, causing the child to receive two chromosomes from one parent and one from the other parent for a total of three. The Down syndrome child will then have 47 chromosomes, instead of 46. This occurs in 90% of all Down syndrome cases.

With Mosaic syndrome disorder, chromosome 21 gets damaged during cell replication, where two normal chromosomes become three in some cells. People with this disorder have some cells with 46 chromosomes and some cells with 47 and their symptoms may be less severe.

This occurs in 2% of all Down syndrome cases. The last type of Down syndrome is called Translocation and occurs when a normal chromosome breaks into two pieces and attaches to another chromosome. This occurs in 3-4% of all Down patients.

Prior to pregnancy, parents can meet with a genetic counselor to determine their risk of passing on a Down syndrome genetic code. Sometimes disorders run in the family, if more than one person has the condition. In other cases, mothers over the age of 35 may have an increased risk for having Down syndrome babies or, in rare instances, environmental factors can play a part.

Some Down syndrome research suggests that smoking while being on birth control can cause the syndrome, although it is debated in some circles. Once pregnant, a woman can go for ultrasound, non-invasive blood tests or undergo amniocentesis for a more accurate assessment.

The severity of Down syndrome varies greatly from person to person. There is not much Down syndrome genetic research on the specific differences between trisomy 21, Translocation and Mosaic syndrome, at present. However, a 1991 report suggested that children with Mosaic syndrome had a mean IQ of 12 points higher than children with typical Down syndrome.

Yet some children with typical Down syndrome still scored higher, which underscores the uniqueness of every child. The Department of Human Genetics at the Medical College of Virginia reported that children with Mosaic syndrome reached their motor milestones earlier than children with typical DS, but speech development was equally delayed in both test groups.

Genetic Testing Kit

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