ABNORMALITIES INVOLVING SEX CHROMOSOMES

1. KLINEFELTER'S SYNDROME

Symptoms of the syndrome are small testicles, small penis, man boobs, long legs, pear-shaped body, very little body or facial hair, inability to produce sperm, decreasing libido after age 25, low muscle mass, tendency to be overweight and an increased risk of diabetes and osteoporosis. Of course, some men with Klinefelter's Syndrome only present a couple of the symptoms and for the rest appears quite normal. That's why it can go undetected their whole life.

Characteristics:
Infertility (azoospermia or oligospermia) Small, firm testes Hypergonadotropic hypogonadism Gynecomastia Tall, slender body habitus with long legs and shorter torso Osteoporosis (in young or middle-age men) Motor delay or dysfunction Speech and language difficulties Attention deficits Learning disabilities Dyslexia or reading dysfunction Psychosocial or behavioral problems

2. TURNERS SYNDROME

Turner syndrome occurs in 1/2500 live births. It is caused by a partial or complete absence of one of the X chromosomes in a female. A single X chromosome is the most common cause of miscarriage. It is believed 99% of all 45, X conceptions result in miscarriage. The fetuses are often severely hydropic. When a baby is born with Turner syndrome there are often few features. One feature that can be noted during the newborn period is puffy hands and puffy feet. Broad chest can also be an early sign. The majority of females have normal intelligence. There are some deficits in visual special abilities. Most females with Turner syndrome present at age 5-6 with short stature. Features include short stature, webbing of the neck, shield chest, shortened 4 the metacarpal and made lung deformity of the forearm. There is also a risk of renal anomalies including horseshoe kidneys. Adolescent girls with Turner syndrome often have failure of puberty, absence of spontaneous breast development and primary amenorrhea.

3. TRIPLE X FEMALE
Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. Triple X syndrome is not inherited, but usually occurs as an event during the formation of reproductive cells (ovum and sperm). Triple X results during division of a parent's reproductive cells and occurs about once in every 1,000 female births.

Symptoms

If physical features are present they will be very mild: Tall stature Microcephaly (small head) Epicanthal folds - a vertical fold of skin that comes down across the inner angle of the eye. Increased width between the eyes Delayed language skill development Delayed motor skill development, resulting in poor coordination, awkwardness, and/or clumsiness. In very rare cases, infertility Some may have menstrual irregularities Some may experience an early onset of menstruation

Girls with Triple X syndrome are at increased risk of delayed language development, EEG abnormalities, motorcoordination problems and auditory-processing disorders, and scoliosis. They tend to show accelerated growth until puberty. Premature ovarian failure seems to be more prevalent in these women, however most Triple X women seem to have normal fertility.

4. JACOBS SYNDROME
47, XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although males with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most males with 47, XYY syndrome have normal sexual development and are able to father children. 47, XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), hand tremors or other involuntary movements (motor tics), and behavioral and emotional difficulties are also possible. These characteristics vary widely among affected boys and men. A small percentage of males with 47, XYY syndrome are diagnosed with autistic spectrum disorders, which are developmental conditions that affect communication and social interaction.

Symptoms
Men with XYY, as children have increased Risks of Impulse Control Issues Temper Tantrums Minor Speech Impediments Motor Skill Delays Learning Disabilities Severe Acne Usually taller than siblings and parents during teenage years Along with these childhood signs of XYY Super male, as adults, these men that are afflicted with XYY Super male Syndrome are sometimes infertile. Physical Traits Severe Acne Higher stature than siblings Large Hands and Feet Skeletal malformations Behavioral Traits Temper Tantrums Learning Disabilites Agressive Behaviors Problems determining between 'right' and wrong. Cognition differences between someone with one and two Y Chromosomes. XYY boys grow taller than average, they have a 'growth spurt' during childhood which results in an average height of 6 foot, 2 inches. In early childhood, XYY boys are very active, with good eating and sleeping patterns. During adolescence, they may experience severe acne. In some cases, XYY males show learning difficulties, with slightly lowered intelligence scores for the group compared with XY males. They may have delayed speech development and have difficulties in communication. Boys with an extra Y chromosome seem to be at higher risk of having problems at school. Behavioral problems involve difficult and defiant behavior which usually starts in childhood. Temper tantrums are common. It has been suggested that XYY males are predisposed to commit criminal acts more frequently than expected. Sexual development is normal including development of sex organs and of secondary sex characteristics. Fertility is not affected.

5. CRI-DU-CHAT SYNDROME
The most identifiable symptom is the infant's mewing cry (hence the name "Cry of the Cat"), due to defects with the larynx and nervous system. The cry becomes less and less noticeable as the child ages, and is most often lost by age two. Other symptoms include: difficulty swallowing and sucking leads to feeding problems low birth weight severe cognitive, speech, and motor impairments behavioral problems including hyperactivity and tantrums repetitive movements unusual facial features wide-set eyes with a downward slant low-set ears with a skin tag in front flat nasal bridge short fingers growth retardation problems sleeping cardiac problems