Chromosomal Abnormalities PDF

# Chromosomal abnormalities ## Causes 1. Hereditary in the family 2. Old age pregnant women 3. Infection with German measles during pregnancy. 4. Exposure to radiation or autoimmune disease. ## Structural | Class of Part | Description | |---|---| | Deletion | حذف جزء من كروموسوم أو أكثر | | Break...

# Chromosomal abnormalities ## Causes 1. Hereditary in the family 2. Old age pregnant women 3. Infection with German measles during pregnancy. 4. Exposure to radiation or autoimmune disease. ## Structural | Class of Part | Description | |---|---| | Deletion | حذف جزء من كروموسوم أو أكثر | | Break of chromosomes & ring formation | تكسر قطع وتقلبها وتلزقها غلط | | Inversion | تعديل مكان القطع على الكروموسوم | | Translocation | تقطع عرض بدل حولى عند السترومير | | Isochromosomes | (transverse instead of long tidual) | ## Numerical * **Polypolidy** (ضافة مبنى أو حذفه) * 3n - triployd * 4n - tetra ployd * In human (Can't Complete) * Cause (mis carriage) * Loss of pregnancy ## Aneuploidy * **Triosomy** (الإضافة) * **Monosomy** (حذف) ## Turner syndrome * **Monosomy** * **The only female who lives** * **The only male who has a Barr body** * **The only who lacks barr body in Turners** ## Aneuploidy * **AutoSomes** * Observed in all chromosomes * Except for the first chromosome * **Sex Chromosomes** * Observed in the fifth chromosome * **XXX** * Triple X female (Super female) * Down syndrome or Mongolism * **XXY** * Klinefilter syndrome (47, XXY) ## Symptoms * **Poor musculature** (ضعف عضلات) * **Underdeveloped Genitalia** * **Infertility** * **Gynecomastia** * **High risk for breast cancer** ## Lethal * <strong>AutoSomes</strong> * Primary amenorrhea * Underdeveloped genitalia * Secondary sex characters * Infertility * Renal / cardiac anomalies * <strong>Sex Chromosomes</strong> * **Xo (45, X1)** * Turner syndrome * Gonadal dysgenesis * (اخلل تكون الغدد التناسلية) * **Yo** * Lethal * ميت