Term
|
Definition
| caused by a gene on chr. 15 and charcterized by slow growth and mental retardation |
|
|
Term
| Cleft Lip and Claft Palate |
|
Definition
| Two Conditions that involve a split or seperation in the lip or roof of the mouth; specific cause not known |
|
|
Term
|
Definition
| autosomal recessive blood disorder caused by gene on chr. 11 and 16; most prevalent in populations of Mediterranean descent |
|
|
Term
|
Definition
| caused by gene on chr. 12 and characterized by neurological problems and inability to break down phenalalanine |
|
|
Term
|
Definition
| sex linked blood disorder that results in the inability of the blood to clot |
|
|
Term
|
Definition
| trisomy syndrome that results in males with underdeveloped sex organs, higher incidence of breast cancer, sterility, and sexual disfunction; XXY |
|
|
Term
|
Definition
| autosomal dominant disorder caused by a gene on chr.4 that results in damage to nerve cells and usually shows up after the age of 30 |
|
|
Term
|
Definition
| autosomal recessive disorder caused by the HBB gene on chr.11 that results in hemoglobin problems; most prevalent in African Americans |
|
|
Term
|
Definition
| syndrome characterized by feeding problems, rapid obesity, short stature, small hands/feet, cognitive impairment, and underdeveloped sex organs |
|
|
Term
|
Definition
| Neural tube defect possibly caused by lack of folic acid during pregnancy |
|
|
Term
|
Definition
| trisomy syndrome resulting in cleft lip/palate, extra fingers/toes, heart defects, low set ears, small head, sloping forehead |
|
|
Term
|
Definition
| trisomy syndrome of chr.18 that results in low birth weight, redundant skin folds, mental retardation; usually die by 2 months age |
|
|
Term
|
Definition
| Trisomy of chromosome 21 caused by nondisjunction or translocation that results in mental retardation |
|
|
Term
|
Definition
| sex linked disorder that results in weakened muscles; degenerative; usually starts in legs |
|
|
Term
|
Definition
| autosomal dominant problem located on chr.2 reulsting in deafness, wide bridge of nose, 2 different colored eyes, white forlock, white eyelashes, and premature greying |
|
|
Term
|
Definition
| developmental disability that affects the way a person communicates; exhibits repetitive behavior and resistence to changes in routine; seems to have a strong genetic component |
|
|
Term
|
Definition
| syndrome caused by gene on chr. 15 and charcterized by skeletal, ocular, and heart problems; Lincoln was thought to have a form of this |
|
|
Term
|
Definition
| sex linked disorder caused by repetivtive base sequence CGG that results in mental retardation and hyperactivity |
|
|
Term
|
Definition
| disorder where the body does not produce melanin |
|
|
Term
|
Definition
| autosomal dominant disorder caused by a gene on chr. 4 that results in dwarfism |
|
|
Term
|
Definition
| monosomy syndrome that results in females with short stature, webbed neck, and immature ovaries; XO |
|
|
Term
|
Definition
| autosomal recessive disoreder caused by a gene on chr. 7 that results in excess fluid that causes problems with respirations and digestion |
|
|
Term
|
Definition
| autosomal dominant disorder that results in rapid aging |
|
|
Term
|
Definition
| syndrome charcterized by abnormal blood vessels that affect the skin and gastrointestinal tract |
|
|
Term
|
Definition
| (22b) caused bye deletion of chr. 5 resulting in high pitched cry; more common in females |
|
|
