Missing a chromosome

Discussion in 'The Watercooler' started by Kjs, Sep 2, 2009.

  1. Kjs

    Kjs Guest

    Thought I would ask the experts.

    My next door neighbor has 6 kids. All under 10, all homeschooled. Very rarely go anywhere. The youngest baby is about 8 months old.

    The boys were talking to me yestersay (age 6 and 4). The older one says the baby isn't going to talk, or will have a hard time because she is missing a chromosome. I don't want to straight out ask the mother. We talk, but not too often. She is busy (home schooling the kids) or I am working. The baby is a girl. What does that mean?
  2. GoingNorth

    GoingNorth Crazy Cat Lady

    Being as it is a girl, the first thing I would suspect is Turner's Syndrome where the person is missing one of the two sex chromosomes. If a normal female is XX, a Turner's female is XO.

    There are usually profound LDs, delayed or no speech, and missing internal sex hormones.

    Turner's children also have a webbing of the neck tissue.

    You can google this for more info. Could be a lot of other things as well.
  3. susiestar

    susiestar Roll With It

    It could also be Down's Syndrome. I don't know all the symptoms but you could google them.

    maybe you could take over some cookies or a coffee cake to "get to know her" more. A neighborly thing to do. And probably appreciated because homeschooling that many kids is a big job. Make sure she eats sweets first. If not, maybe invite them to a cookout?

    If the child does have a missing chromosome she is going to need all the help and friendship she can get. It may take a few meetings/coffee klatches, but she will probably be relieved to find someone who understands a bit.
  4. ThreeShadows

    ThreeShadows Quid me anxia?

    Here's the long explanation:


    What she has is a chromosomal deletion. This will be very hard on her family. They will need lots of support.
  5. Marguerite

    Marguerite Active Member

    Downs is an extra chromosome 21. There are a lot of chromosomal abnormalities from whole chromosomes added or missing, to parts of chromosomes. Depending on what sort of problem and which part of which chromosome, they have different labels and different degrees of problem. Even Downs people can have a wide range of degrees of capability, ranging fully into the completely capable and right down to needing a lot of support.

    You just never know how it will turn out. It's a matter of coping from day to day, dealing with each issue. It's not all bad though. There can be joys in there, each bit of progress is a celebration all the more, because it is not expected nor counted on.

    A family living near us had a Downs baby after a lot of older siblings. The little girl was a fair-haired sprite of a thing, a darling. Loving, kind, very much loved. Hard work sometimes, always needing to be watched but also always ready with a hug.
    She died - car accident, I don't know the details - and the church was packed to capacity and more, for the funeral. We all felt blessed to have had this treasure in our lives, even if only for a short time.

  6. Lori4ever

    Lori4ever New Member

    My brothers 2 sons have a problem with chromosomes. They called it Di George Sydrome. It has had a really bad effect on them with them.
  7. Lothlorien

    Lothlorien Active Member Staff Member

    There are so many named disorders Turner's syndrome, William Syndrome and Trisomy(insert # of chromosome) are just a few. I knew a family that had a child with Trisomy (not sure which number). The child wasn't supposed to live for more than a few months, but she lived for five years. It was a tough five years, too. She was sick constantly and rarely slept. The parents were completely exhausted all the time. Right after she passed away, they found out they were pregnant with a healthy child, which I thought was an amazing gift after going through so much.