1. Skeletal malformation: increased height, long extremities, arachnodactyly (spiderlike appearance on hands/fingers), chest depression (pectus excavatum), chest protrusion (pectus carinatum), chest asymmetry, scoliosis, kyphosis, arched palate, join hypermobility.
2. Ocular: lens displacement, cataract formation, nearsightedness, and retinal detachments. Seventy- five percent have crystalline lens displacement (ectopia lentis), the ocular hallmark of Marfan's Syndrome. Quivering of the iris with eye movement (iridondonesis). Most patients are severely myopic, many have retinal detachment, and some have glaucoma.
3. Cardiac: valve and aorta dysfunction.
> Valvular - anatomic defect producing redundancy to the leaflets, stretching of the chordate tendineae, and calcification of the mitral annulus. MVP progress to MVR (backflow of blood from the LV to LA).
> Aorta - dilation of the aortic root and ascending aorta - aortic regurgitation (backflow into LV), aortic dissection, and rupture.
4. Thin body build with little subcutaneous fat, striae over the shoulders and buttocks. Spontaneous pneumothorax, inguinal and incisional hernias, dilation of the dural sac.
Two breaks on a chromosome, followed by the reinsertion of the missing fragment at its original site but in inverted order. Example chromosome a,b,c,d,e becomes, a,e,b,d,c
No loss or gain of genetic material
Balanced alteration of chromosome structure - no physical effects
Problems will be evident in offspring of individuals carrying the inversion.
a. Produces mental retardation, characteristic facial features and distinctive physical abnormalities.
b. Associated with heart defects and other congenital abnormalities including:
Duodenal obstruction, clubfoot, imperforate anus, cleft lip and cleft palate, Hirschsprung's disease (congenital colon enlargement), myelomeningocele, and pelvic bone abnormalities.
c. 44% die in the first year due to congenital heart disease
d. Birth - the baby are more lethargic with 1 or more of the following: slanting, almond-shaped eyes, protruding tongue, small, open mouth, single, transverse crease on the pal (simian crease), small white spots on the iris (Brush field's spot), small skull, flat nose bridge, flattened face, small ears, short neck with excess skin.
e. Short stature, short extremities,
f.Hands/feet - broad, flat and squarish
- Based on abnormality and point in time of nondisjuncture
- Skeletal abnormalities - short stature, short fingers, short neck, cleft palate, webbing of the neck in 50 % of the cases,
- Soft tissue abnormalities - lymphatic obstruction, low hairline, widely spaced nipples
- Organ abnormalities - cardiac (15-20% have narrowing of the aorta) , kidney, hearing loss
- Reproductive problems (estrogen deficiency), hypothyroidism, deafness, osteoporosis, sparse body hair
- Usually sterile and gonad streaks rather than ovaries. These streaks of
connective tissue are susceptible to cancer