https://padlet.com/jforster_forster/fpms2cgketlv By Julia Forster en-us 2018-03-23 11:49:07 UTC 2018-03-29 01:05:22 UTC hello@padlet.com jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/246063177 2018-03-26 13:21:39 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/246063177 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/246065126 The nucleus of every cell in our bodies contains chromosomes,  which carry our genetic characteristics. Humans have 22 pairs of chromosomes, with a third pair of XX for females or XY for males. Each chromosome has a short arm and a long arm.]]> 2018-03-26 13:24:38 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/246065126 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/246067566 In patients with Cat eye syndrome, the 22nd chromosome is affected. The short arm of the chromosome and a portion of the long arm are present four times in the body instead of two. In some diagnosed patients, a region of the long arm is present in three copies.]]> 2018-03-26 13:28:37 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/246067566 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/246069002 Symptoms are shown from birth, and are sometimes detectable during the pregnancy. Symptoms are a result of abnormal development during the embryo and fetal stages of the pregnancy. Some people with Cat eye syndrome barely show any symptoms, while others show a wide range with varies extremities. Because of this, scientists say it is best to view Cat eye syndrome as a spectrum of symptoms.]]> 2018-03-26 13:31:06 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/246069002 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/247109872 Most people with CES have some sort of eye abnormality, the most common of which is an iris that appears like a cat's. This happens because there is a gap in the pupil, resulting in an elongated pupil spectrum.]]> 2018-03-29 00:33:28 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/247109872 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/247110081 Anal abnormalities are almost a given for individuals with CES.]]> 2018-03-29 00:35:15 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/247110081 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/247111262 Ear abnormalities are also very common. They are present in 80% or people with CES. This usually refers to preauricular skin tags and/or pits, which can sometimes cause mild to moderate hearing impairment.]]> 2018-03-29 00:43:30 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/247111262 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/247111487 50% of people with CES have heart defects. Structural abnormalities of the heart at birth results in congenital heart defects.]]> 2018-03-29 00:45:27 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/247111487 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/247111874 A study of people with CES indicates that 47% have normal IQ levels, 22% have borderline normal, 18% have mild intellectual disability, and 14% have moderate intellectual disability.]]> 2018-03-29 00:48:07 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/247111874 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/247112012 CES can be diagnosed before birth with the use of ultrasound, amniocentesis, and chronic villus sampling technologies.]]> 2018-03-29 00:48:57 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/247112012 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/247112361 Some other less common symptoms are kidney and other genital defects, abdominal defects, skeletal defects, cleft palate, and abnormal facial features.]]> 2018-03-29 00:51:39 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/247112361 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/247112707 It can be scary to learn your child has a genetic syndrome. When I found out my child has CES, I was terrified it was my fault and that I wouldn't be able to give them the right resources. I did a lot of research, and can share what I have learned to ease some of your concerns.]]> 2018-03-29 00:53:39 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/247112707 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/247112957 If a child inherited CES, it is because both parents had milder symptoms, meaning the marker chromosome was only in certain cells. This is no reason to blame yourself! CES does not stop your child from living a happy, healthy life!]]> 2018-03-29 00:55:35 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/247112957 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/247113579 Disease management of CES is directed towards the specific symptoms that the patient shows.]]> 2018-03-29 00:58:38 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/247113579 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/247113751 Determined by the severity and threat it poses, congenital heart defects may be treated with medication or surgery. If surgery is required, patients may be subjected to antibiotic therapy before and after the surgery because they run a risk of bacterial infection of the heart lining.]]> 2018-03-29 00:59:43 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/247113751 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/247114004 Again, the treatment depends on the severity of the symptom. Skeletal abnormalities can be treated with physical therapy, and, in extreme cases, surgery.]]> 2018-03-29 01:01:36 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/247114004 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/247114118 Patients may undergo growth hormone therapy if their short stature is severe.]]> 2018-03-29 01:02:37 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/247114118 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/247114201 Families with symptoms of CES or relatives with CES are advised to consult a genetic counselor.]]> 2018-03-29 01:03:19 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/247114201 jforster_forster https://padlet.com/jforster_forster/fpms2cgketlv/wish/247114463 2018-03-29 01:05:22 UTC https://padlet.com/jforster_forster/fpms2cgketlv/wish/247114463