Discuss about topics:
• Down Syndrome
• Turner’s Syndrome
• Klinefelter Syndrome
Genetic Disorders
Genetic Disorders, Down syndrome, Turner syndrome, Klinefelter syndrome
Genetic Disorders
Down Syndrome
• Down syndrome has an extra copy of chromosome 21 known as Trisomy of the 21st chromosome.
• Clinical Manifestation
• A flattened face, especially the bridge of the nose
• Almond-shaped eyes that slant up
• A short neck, small ears
• Small pink fingers that sometimes curve towards the thumb
• Poor muscle tone or loose joints
• Shorter in height
• A tongue that tends to stick out of the mouth
• Tiny white spots on the irts (colored part) of the eye
• Small hand and feet
• A single line across the palm of the hand (palmar crease)
• Turner Syndrome
• It is a condition affecting only females. These females have only a single copy of X chromosome (45 x) instead of two.
• The most common feature of Turner syndrome is short stature.
Clinical Features
• Short neck with a webbed appearance
• A low hairline at the back of the head
• Low-set ears
• Some individuals may have swollen, puffy hands and feet.
• A board chest with widely spaced nipples may occur (shield chest)
• Narrow fingernails and toenails that are turned upward
Management :
• Growth promoting therapy : GH increases childhood growth and final adult height.
• Estrogen replacement therapy : It is for sexual development and preservation of bone minerals density.
• Klinefelter’s Syndrome
Klinefelter Syndrome is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47, XXY karyotype.
Clinical Manifestation
• Small, firm testicles
• Cryptorchidism
• Delayed or incomplete puberty with lack of secondary sexual characteristics.
• Breast growth (gynecomastia)
• Social, psychological and behavioral problems
• Hypospadias
• Learning disability, speech delay
• Abnormal body proportions (long legs, short trunk, shoulder equal to hip size)
• Tall stature
• Infertility
• Reduced facial and body hair etc.
Treatment :
• Testosterone replacement therapy
• Infertility treatment etc.
Some important key Points:
• X-linked recessive disorders are more common among males as compared to females.
• Trisomy 13 is identified as Patau’s syndrome.
• Trisomy 18 is identified as Edward’s syndrome
• Trisomy 21 is identified as Down’s syndrome
• A chromosomal disorder in which a female is born with only one X chromosome is known as Turner’s syndrome.
• Triple marker screen test involves Alpha- fetoprotein , Human chronic gonadotropin, and Estriol. It is performed during the second trimester of pregnancy to diagnose the risk for chromosomal abnormalities in the fetus.
• Turner syndrome is not an inherited abnormality. Because women with Turner syndrome are sterile and cannot have children.
• Klinefelter syndrome is the most common cause of primary hypogonadism and infertility in males.
• “Jerky ataxic movement (Happy Puppet)” is seen in Angelman syndrome, a genetic disorder.
• Anti-monogoloid slant it seen in Teacher Collins syndrome and Cri du chat syndrome
• Rocker bottom foot is seen in Edward syndrome
I hope that you liked this article.
Thanks all of you!
(Writer Vandita Singh, Lucknow)