12 Klinefelters Syndrome XXY Nondisjunction Tallness with extra long arms and legsAbnormal body proportions (long legs, short trunk)Enlarged breastsLack of facial and body hairSmall firm testesSmall penisLack of ability to produce spermDiminished sex driveSexual dysfunctionLearning disabilitiesPersonality impairment
13 Klinefelters syndrome presenting “leg ulcers” 1/50 –1/1000 are bornWith KSExtra X chr. #47Due to anaphase lag(fails to separate)Chronic venusInsufficienciesObesityReduced testosteroneTherapy (cause)
14 Turners syndrome X Nondisjunction Turner syndrome is a birth defect caused by the absence of an X chromosome in some or all cells of a female, which inhibits sexual development and usually causes infertility.MONOSOMY – zygote with 45 chromosomes
15 Continue…In Turner syndrome, an error occurring very early in development results in an abnormal number and arrangement of chromosomes. Most commonly, an individual with Turner syndrome will be born with 45 chromosomes in each cell rather than 46. The missing chromosome is an X chromosome. The affected person is always female
16 Mosaics…More than half of all girls with Turner syndrome are mosaics, which means that the mutation occurs in some but not all cells of their body. Therefore, Turner syndrome can vary in severity. The fewer the affected cells, the milder the disease1 / 2,500 female births have turners syndrome
17 Symptoms of Turner Syndrome short staturewebbed skin of the neckabnormal eye features (drooping eyelids)abnormal bone development, such as a "shield-shaped," broad flat chestabsent or retarded development of secondary sexual characteristics that normally appear at puberty, including sparse pubic hair and small breastscoarctation (narrowing) of the aortabicuspid aortic valveinfertilitydry eyesabsence of menstruation
24 Who gets dwarfism and bone dysplasias? Bone dysplasias and dwarfism are rare. The most common type of dwarfism (achondroplasia) occurs in one in 15,000 children.A defective gene that stops bone from growing in the usual way causes most bone dysplasias. Sometimes this gene is passed on from a parent to a child (genetic).Much more often, though, the condition arises from a new change in the gene (spontaneous genetic mutation), and the baby is the first in her family to be affected.