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Genetic Disease

TermDefinition
Klinefelter Syndrome K- 47 XXY L- Long Stature I- Infertility N- Nondisjunction of sex chromosomes E- Eunuchoid body proportions F- FSH elevated, scanty Facial & axillary hair E- Estradiol/testosterone ratio elevation L- LH elevated T- Testosterone reduced
Turner Syndrome 1. Partial monosomy of the X chromosome. 2. Hypogonadism in phenotypic females. 3. Loss of the sex chromosome from the zygote due to 45, X mosaicism.
Turner Syndrome Pathophysiology Missing an Entire X Chromosome, resulting in a 45,X karyotype. Loss of short arm(isochromosome) or deletions (46,XisoXq).
TS - Clinical Features Edema of the dorsum of the hand and foot due to lymph stasis, Swelling of the nape of the neck - markedly distended lymphatic channels - cystic hygroma Swellings subside with age but often leave bilateral neck webbing and persistent looseness of skin Short stature and Amenorrhea Failure to develop normal female secondary sex characteristics.
Fragile X Syndrome Long repeating sequence of three nucleotides (TNR Expansion) --> more than 55 CGG repeats 1. Long face with a large mandible. 2. Large everted ears. 3. Large testicles (macro-orchidism). 4. Hyperextensible joints.
Down syndrome Trinucleotide mutation in Familial Mental Retardation-1 (FMR1) GENE
Genomic Imprinting Diseases. 1. Prader-Willi Syndrome. 2. Angelman Syndrome.
Prader-Willi Syndrome (Prader = paternal deletion) Deletion of band q12 in the long arm of chromosome 15 Neonatal hypotonia - floppy or ragdoll baby, weak cry Aggressive behavior 1. Hyperphagia → obesity 2. Almond-shaped eyes, small, down-turned mouth 3. Round facies
Angelman's syndrome Deletion of the normally active maternal allele on chromosome 15q Hyperactivity - inappropriate laughter - "happy puppet"
Edward’s Syndrome Trisomy 18 Large amount of amniotic fluid Horseshoe kidneys Rocker-bottom feet
Created by: Jameel D. Wilson
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