1. Down Syndrome
2. Turner Syndrome
3. Klinefelter Syndrome
4. Philadelphia Chromosome or CML 1. Down Syndrom is also called Trisomy 21, this means that it happens when there are three chromosome 21s instead of the normal two. Down Syndrome doesnt have "symptoms" it has characteristics. The physical characteristics of Down Syndrome in infancy typically involve low muscle tone, flat appearance of the face, upward slanting eye creases, small ears, single skin crease in the palm, extremely flexible joints, large tongue, and several others.
2. Turner Syndrome occurs only in females and is characterized by the presence of only one X sex chromosome, instead of the normal two X's. Characteristics of Turner Syndrome include short stature, lack of ovarian development, low set ears, a short neck, and heart and kidney abnormalities.
3. Klinefelter Syndrome only occurs in males, and is characterized by the presence of two X sex chromosomes and one Y sex chromosome instead of the normal one X and one Y. Klinefelter Syndrome is characterized by sterility, some degree of language learning impairment may be present. In adults, possible characteristics vary widely and include little to no signs of affectedness, a lanky, youthful build and facial appearance, or a rounded body type with some degree of gynecomastia (increased breast tissue).
4. Philadelphia Chromosome is when parts of two chromosomes, numbers 9 and 22, swap places, this is called translocation. 95% of people with this abnormality have CML because it affects the proper function of the bone marrow and produces unhealthy myeloid cells.
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