What is trisomy 18?

Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with severe intellectual disability and abnormalities in many parts of the body. Individuals with trisomy 18 often have a low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; heart defects; and abnormalities of other organs. Due to the presence of several life-threatening medical problems, many infants with trisomy 18 die within their first month. Five percent to 10 percent of children with this condition live past their first year.

How common is trisomy 18?

Trisomy 18 occurs in about 1 in 5,000 newborns. Approximately 80 percent of newborns affected by this disorder are female. Although women of all ages can have a child with trisomy 18, the chance of having a child with this condition increases as a woman gets older.

What are the genetic changes related to trisomy 18?

Most cases of trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 18.

Approximately 5 percent of people with trisomy 18 have an extra copy of chromosome 18 in only some of the body’s cells. In these people, the condition is called mosaic trisomy 18. The severity of mosaic trisomy 18 depends on the type and number of cells that have the extra chromosome. The development of individuals with this form of trisomy 18 may range from normal to severely affected.

Very rarely, the long (q) arm of chromosome 18 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in embryonic development. Affected people have two copies of chromosome 18, plus extra material from chromosome 18 attached to another chromosome. If only part of the q arm is present in three copies, the physical signs of translocation trisomy 18 may be different from those typically seen in trisomy 18. If the entire q arm is present in three copies, individuals may be as severely affected as if they had three full copies of chromosome 18.

Can trisomy 18 be inherited?

Most cases of trisomy 18 are not inherited, but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 18 in each of the body’s cells.

Mosaic trisomy 18 is also not inherited. It occurs as a random event during cell division early in embryonic development. As a result, some of the body’s cells have the usual two copies of chromosome 18, and other cells have three copies of this chromosome.

Translocation trisomy 18 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 18 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 18. Although they do not have signs of trisomy 18, people who carry this type of balanced translocation are at an increased risk of having children with the condition.

©2012 Kamarz.com. All Rights Reserved.

Chris Harrison Talks Emily Maynard

Though we’ve known sweet, Southern single mom Emily Maynard would be the next Bachelorette for a week, host Chris Harrison, who officially announced it on Good Morning America this morning, assures us it was only a done deal today.

The producers have long been courting Emily Maynard

“We approached her. She was reluctant, and needed a lot of time to think about it, obviously, because there’s somebody else involved in her life, Ricki, her daughter. It was a huge decision. It wasn’t our usual approach to finding the Bachelorette,” he says. “We took it very slow. We had a lot of interviews. She had a lot of reservations, a lot of them centered around her daughter and how we’ll handle that — logistically, too, is she gonna come along? All that’s being worked out. But ultimately, she, like Ben [Flajnik] and even Brad [Womack], ironically enough, knows that she can trust us. It means a lot to me, honestly, that someone like an Emily will come back. It says a lot about this franchise and what we do. Yes, we have dramas and tears, and if you saw The Bachelor last night, the show can be crazy, but at its core, it is a good thing and it works. That’s why these people come back.”

Below, Harrison, who also blogs each episode of The Bachelor for EW.com, talks about how Emily Maynard season will be different and what Bentley Williams, the villain from Ashley Hebert’s Bachelorette season, would have to do if he really wanted to contend for Emily Maynard hand. (That is all conjecture at this point, Harrison says.) Come back on Monday, when Harrison talks about the current season of The Bachelor, and by that, we mean Courtney versus Emily.

ENTERTAINMENT WEEKLY: What kind of compromises has the show made to get Emily to sign on? Rumors are production will move to Charlotte, so she can be near her daughter.

CHRIS HARRISON: With Emily as the Bachelorette, the show is gonna be completely different on a lot of levels. The locations have not been confirmed — Charlotte and beyond that. We’re still scouting all over the place. We still have a lot of time before we start shooting [for a spring premiere]. Going to her, or somewhere in between, there will be a lot of compromises because of Ricki, which is cool. I love that. You go back to Jason Mesnick, a single dad, and we made a lot of accommodations whether it was bringing Ty in or a babysitter, whatever he needed. We’re gonna make it work. But TV-wise, it’s gonna be a very different season of The Bachelorette, again pushing the social debate of the single mom and when is it okay to bring the daughter in? Is it okay? How do you act as a mom? Is it different than as a single mom who’s footloose and fancy-free? What about the guys? How are they gonna ask? The guy who comes in and gets dead drunk on night 1 and passes out, that’s not so cute anymore. So how much frat house behavior is there? Are there guys in the middle of it that are like, “I’m out. It’s not for me. I don’t want to be a dad.” So it’s gonna be a very different season, and I kinda relish that. It’s one thing I love about The Bachelor, every season is different because everybody has their own baggage, their own history, and Emily obviously is bringing hers to the table.

There are rumors that Bentley has shown interest in being one of her suitors. If he were to come back, what do you think producers would have to do to make viewers accept that? You want good TV, but bringing in someone with a known history like his is dangerous — especially when you’re dealing with a single mom.

Honestly, we haven’t approached Bentley. I don’t think he’s approached us. The only reason everyone is talking about it is because they remember that moment where he said, “I came on The Bachelorette thinking Emily was going to be the Bachelorette,” and obviously it was Ashley and chaos ensued … I don’t mean to be the big brother like I’m the gatekeeper, but he’d have to impress me. I love Emily. She’s a friend of mine, and before I let any SOB on the show, I want to make sure he’s a good guy. But you know what, I wouldn’t be opposed to him coming back. I really wouldn’t. This has nothing to do with TV. If he came back and did a full mea culpa and threw himself on the court and said, “Look, I was an ass. I screwed up. I am sorry. You’re right. Now that I watch it back, we all make mistakes. We all do foolish things,” if he came back and seemed sincere, then it’s up to Emily. I don’t mind giving someone a chance, because then it’s her choice. And you know what, crazier things have happened, maybe they end up happily married.

When rumors of Emily Maynard casting surfaced, it reignited the debate over recycled contestants: Some fans love it, some fans hate it. What’s your position on it?

Agree to disagree on all aspects. I’ve always been really on the other side of the fence from the creator of the show, Mike Fleiss. I say you can easily go out and find that Bachelor, that everyday guy — Aaron Buerge and Andy Baldwin, we’ve done it before. I’ve always fought for going out and finding someone new. I can’t guarantee it, but we’ll do it again. We will. That’s what the whole show was predicated on. We’re gonna find this great guy — not necessarily a celebrity, not necessarily someone you know, not necessarily millionaire but just a great, great guy that’s sincerely looking for long and would be an awesome catch — and let’s let it play out. I would love to get back to that. But on the flip side of the coin, Mike Fleiss, who is far more of a genius than I am — it’s why he’s the millionaire, and I’m the host — says you have that built-in story, and there’s a lot to said for having a built-in story coming into reality television. The hardest thing to do is start a show, whether it’s Survivor, Idol, anything, and making you care about these characters. And when you already care, we got you. We already have half the battle won … I think when it comes to Emily and The Bachelorette, when you have such an obvious home run and it’s such a great story and a great social story with the single mom as well, there’s so much that we’ll bring into the show. Anyone who says they’re not watching, they’re not happy, fine. You don’t have to watch. I think this is gonna be a great show, and I totally agree with “recycling” Emily and bringing her back.

Source Via : insidetv.ew.com : Chris Harrison talks Emily Maynard as the Bachelorette (and Bentley having to get past him first)

©2012 Kamarz.com. All Rights Reserved.

Indicates winner

Cecil B. DeMille Award

Morgan Freeman

Best Motion Picture – Drama

©2012 Kamarz.com. All Rights Reserved.

©2012 Kamarz.com. All Rights Reserved.

©2012 Kamarz.com. All Rights Reserved.

©2012 Kamarz.com. All Rights Reserved.

©2012 Kamarz.com. All Rights Reserved.

©2012 Kamarz.com. All Rights Reserved.

©2012 Kamarz.com. All Rights Reserved.

©2012 Kamarz.com. All Rights Reserved.