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1. Turner Syndrome – Femal XO (45 chromosomes) l 1 in 2, 000 females l Delayed puberty, Infertility due to nonfunctional ovaries l Short stature (under 5 feet) l Webbed neck and Low-set ears l Lack secondary sex charateristics

Turner syndrome (TS) is a chromosomal disorder that is not generally inherited. It affects one in 2, 000 female births and is therefore considered a rare disease.

2. Poly X Females – XXX (47 to 48 chromosomes) l 1 in a 1000 l Triple X syndrome usually results from an error in the formation of a mother's egg cell or a father's sperm cell. l Many females do not have any symptoms but symptoms may include; l Tall and thin l Delayed development of speech and language skills l Weak muscle tone l Behavior and mental health problems l Premature ovarian failure or ovary abnormalities

3. Klinefelter Syndrome – XXY – (47 chromosomes) • 1 in 1000 • Slow motor development • Taller than average • delayed or incomplete puberty • Undeveloped testes/sterile • Some learning difficulties • Enlarged breast tissue

4. Jacobs Syndrome – Male 47 chromosmes (XYY) l 1 in 1000 l Taller than average l attention difficulties l delayed motor skill development l delayed or absent puberty l emotional or behavioral issues l weak muscle tone l learning disabilities

B. Genetic Disorders caused by Abnormal Numbers of Autosomes Non-disjunction - is the failure of homologous chromosomes to separate properly during cell division 1. Trisomy 21 – Downs Syndrome (47 chromosomes) l Intellectual disability (mild to severe) l Autistic behavior l Delayed speech and motor skills l Heart trouble l flat face l a small broad nose, abnormally shaped ears, a large tongue, and upward-slanting eyes.

2. Polyploidy – multiple sets of chromosomes l Common in plants but lethal in humans l Triploidy - 3 N C. Genetic disorders caused by a deletion or lost of a chromosome l 1. Down Syndrome 14/21 (Robertsonian Translocation) l Part of the #21 chromosome trans-locates to a normal #14 When the translocation is balanced, the person with it is called a Robertsonian translocation carrier. As carriers are healthy and have a normal lifespan, many never discover about their unusual chromosome rearrangement. In fact, the translocation can be passed down in families for many generations without anyone discovering. An unbalanced. Robertsonian translocation may come to light aftera baby is born with a chromosome disorder. Most babies with unbalanced Robertsonian translocations have parents with normal chromosomes. A minority of babies have one parent who is a

l When the translocation is balanced, the person with it is called a Robertsoniantranslocation carrier. As carriers are healthy and have a normal lifespan, many never discover about their unusual chromosome rearrangement. In fact, the translocation can be passed down in families for many generations without anyone discovering. l An unbalanced. Robertsonian translocation may come to light aftera baby is born with a chromosome disorder. Most babies with unbalanced Robertsonian translocations have parents with normal chromosomes. A minority of babies have one parent who is a Robertsonian translocation carrier

l Fetoscopy – insert a tiny microscope into womb l A small (3– 4 mm) incision is made in the abdomen, and an endoscope is inserted through the abdominal wall and uterus into the amniotic cavity. l Fetoscopy is a technique that utilizes a small camera or scope to examine and perform procedures on the fetus during pregnancy