Term
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Definition
| absence of an organ coupled with persistence of the organ anlage or a rudiment that never developed completely |
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Term
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Definition
| refers to reduced size due to the incomplete development of all or part of an organ |
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Term
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Definition
| anomalies are defects caused by the failure of fusion of the apposed structure, as in spina bifida |
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Term
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Definition
| persistent thyroglossal duct |
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Term
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Definition
| incomplete cleavage of embryonic tissues subsequent to failure of programmed cell death of cells |
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Definition
| Characteristic Facial Dysmorphologies |
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Term
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Definition
| •Recombination between non-homologous chromosomes, in which whole parts of a chromosome are moved to a different location |
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Term
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Definition
rearrangement of parts between nonhomologous chromosomes
A gene fusion may be created when the translocation joins two otherwise separated genes, the occurrence of which is common in cancer |
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Term
| Robertsonian Translocation |
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Definition
Translocation in which the division occurs near centromere
•Produces a very long metacentric chromosome and a small chromosome fragment |
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Definition
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Term
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Definition
| Formed by a break involving both telomeric ends of a chromosome, followed by deletion of the acentric fragments and end-to-end fusion of the remaining centric portion of the chromosome |
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Term
| Trisomy 21 (Down’s Syndrome) |
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Definition
Maternal age increases the risk of trisomy 21
Single flexion crease
Sexual disorders-sterility in male, while females have a 50% chance of having a child with Down's syndrome |
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Term
| Down’s Syndrome physiological issues |
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Definition
Congenital heart defects -> major determining factor for survival; endocardial cushion defect
Gastrointestinal disorders -> Hirschsprung's disease duodenal atresia
Hematologic problems -> 15 to 20X greater incidence of acute leukemia |
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Term
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Definition
•If the father is the carrier of a balanced translocation, there is no increased risk of having another child with Down's
•if the mother is the carrier of a balanced translocation, there is a 15% risk for having another child with Down's |
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Term
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Definition
•Atrophic breasts
•Primary amenorrhea due to streak ovaries
•Masculine woman
Increase in FSH and LH
Decrease estradiol
Mental retardation —20%
•No menarche, sterility
•Webbed neck
•Short stature
X Chromosome |
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Term
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Definition
Low testosterone
•High FSH and LH
•High estradiol
Barr bodies |
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Term
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Definition
tall and slender
Arachnodactyly-spider finger Webbing
Dislocated Lens
15q21 |
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Term
| What kills in Marfan Syndrome |
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Definition
•Most common cause of death is the defective tunica media of the Aorta that leads to dissecting aortic aneurysm
Tear in inner wall, heart ruptures |
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Term
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Definition
hyperelasticity
•Patients also exhibit arthritis, thin scars; and are easily bruised |
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Term
| Ehlers Danlos Syndrome Subtype I |
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Definition
| is the most common with normal life-expectancy |
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Term
| Ehlers Danlos Syndrome Subtype IV |
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Definition
| associated with Type-III (Reticular) Collagen defect; most dangerous due to potential rupture of arteries of GI tract; deficiencies of lysyl hydroxylase and lysyl oxidase, have been identified |
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Term
| Ehlers Danlos Syndrome Subtype VII |
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Definition
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Term
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Definition
Van Recklinghausen Disease
•A defect in NF1 Gene, which codes for a GTPase-ActivatingProtein (GAP), involved in regulation of the Ras protein |
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Term
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Definition
| Six or more such lesions, greater than 1.5cm each in adulthood |
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Term
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Definition
pigmented nodules of iris (masses of melanocytes)
chromosome 22
Patients exhibit bilateral acoustic neuromas |
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Term
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Definition
chromosome 7
Sweat test
Chronic Pulmonary Disease -> Bronchiectasis, widening and hypertrophy of bronchioles |
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Term
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Definition
spontaneous bleeding
Mutations occur in the very large factor VIII gene at the tip of the long arm of the X chromosome |
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Term
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Definition
exhibit a mild, moderate, or severe bleeding tendency, depending on the amount of factor VIII activity in the blood
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Most frequent complication of hemophilia A is a deforming arthritis caused by repeated bleeding into many joints |
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Term
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Definition
| caused by defects in the gene encoding factor IX |
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Term
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Definition
flipper-like stump
chromosome 8
•Thalidomide, pimarily prescribed as a sedative or hypnotic, also claimed to cure “anxiety, insomnia, gastritis, and tension, is thought to cause phocemelia |
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Term
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Definition
•Around the 6thweek of development the intestinal loops herniate through the umbilicus and return back to the abdominal cavity by the 10thweek of development
•Failure of the intestinal loop to return back to the abdominal cavity produces omphalocele |
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Term
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Definition
characterized by the excretion of homogentisic acid in the urine, generalized pigmentation, and arthritis
•deficiency in homogentisic acid oxidase prevents catabolism of homogentisic acid, an intermediate product in the metabolism of phenylalanine and tyrosine
•pt's with alkaptonuria excrete urine that darkens rapidly on standing |
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Term
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Definition
Kayser-Fleischer Ring in the eye which is considered pathognomonic
Accumulation of copper in the brain produces lenticular degeneration
treated by using chelating agents |
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