Term
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Definition
Autosomal Dominant
age dependent penetrance
Cafe Au lait, auxillary freckling, neurofibroma, lisch nodules, learning difficulties, optic nerve glioma, CNA tumors |
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Term
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Definition
Autosomal dominant
Skeletal: long oints, spine curveature, joint disseaction, dolichocephaly
cardiovascular: aortic dissection, mitral valve prolapse
Ocular: Lens dislodgement, myopia, retinal detachment |
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Term
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Definition
Autosomal dominant
Dwarfism, shortened limbs, normal spine, macrocephaly. |
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Term
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Definition
Autosomal Recessive
test with immunoreactive trypsogen
Meconium ileus, exocrine pancreatic insufficiency (malabsorbtion), Respiratory tract/pulmonary disease, salty sweat, male infertility |
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Term
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Definition
Autosomal recessive
Normal at birth,
increased startle at 5-6 months, Progressive weakness(head control), death by 2-4 months, cherry red spot in retina, low hexosaminidase A |
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Term
| Duschene Muscular dystrophy |
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Definition
X-linked recessive
Healthy baby, late to walk, psuedo hypertrophy, replacement of muscle with fat, gower maneuver, wheelchair by 11 years. |
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Term
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Definition
X linked recessive
Excessive bleeding
Factor VIII
Prolonged bleeding times |
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Term
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Definition
X-linked dominant
bowed legs |
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Term
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Definition
X-linked dominant
neurodevelopmetn disorder, normal until 6-18 mos, later signs of like cerebral palsy, language development delays |
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Term
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Definition
X-linked dominant
Also dependent on repeat expansion, mostly in boys (women die in womb or have lower symptoms in hetero, macrocephaly, facial symorphism, large jaw, everted ears, tall stature, joint flexibility, cafe au lait, micro-orchidism, delayed development, mental retardation. |
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Term
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Definition
Autosomal dominant
CAG repeat expansions
Chorea movemetns
behavior changes
cognitive deficit
presents around 40 with anticipation |
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Term
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Definition
UDP 15 maternal or mutation removing father's gene
mental retardation developmetn delay, short, infantile central hypotonia, feeding problems, failure to thrive, hyperphagia, hypogonadism |
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Term
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Definition
UPD 15 paternal or maternal deletion
mental retardation, axiatic gait, seizures, inappropriate laughter. |
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Term
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Definition
XXY
Hypogonadism lack of androgens, FSH elevated, dysgenesis of the testes, reduced spermatogenesis. |
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Term
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Definition
XO
short, webbed neck, braod chest, streak gonads, cardiac abnormalities, horseshoe kidney |
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Term
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Definition
Mitochondrial
Mitochondrial myopathy with encephalopathy, lactic acidosis and stroke. Seizures, diabetes, hearing loss, cardiac disease, shortness, exercise problems, endocrinopathies |
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Term
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Definition
| Inherited vision loss, large onset range 8-60 |
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Term
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Definition
Mitochondrial
Neurogenic weakness |
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Term
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Definition
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Term
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Definition
Translocation (8,14)
C MYC gene over activation |
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Term
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Definition
translocation 9/22
BCR ABL translocation
fatigue, weight loss, anemia
excessive tyrosine activity. |
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Term
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Definition
t(14/18)
BCL2 Abl1 gene associates |
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Term
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Definition
Cri du chat
cry of the cat
mental retardation |
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Term
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Definition
trisomy 21
upsalnting palpebral fissure, epicanthal fold, falt nasal bridge, low set ears, protruding toungue, rocker bottom feet, single transverse fold, COngenital heart disease, risk for leukemia, alzheimer's lesions in the brain, mental retardation. |
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Term
| Robertsonian translocation |
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Definition
t(21, 13/14/15/21/22)
Causes downs syndrome through psuedo anuelploidy, can also be compensatory if missing 21. |
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Term
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Definition
Trisomy 13
mental retardation, severe heart problems, urogential defects, die within 6 months. Microcephaly and cleft lip palate, hands and feet polydactyl, rocker bottom feet, expire within 6 months. |
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Term
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Definition
Trisomy 18
mental retardation, severe heart defects, expire within a year. Prominent occiput receeeded jaw, clenched fists, rocker bottom feet |
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Term
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Definition
Fatty acid disorder
Check acylcanitine C8 very high and 10,6 much lower. Symptoms: hypoglycemia, seizures, hypotonia, hepatomegaly, cardiomyopathy, mental retardation, SIDS. Treat with low fat diet. |
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Term
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Definition
| Sickle cell, SCA, thallasemia. Iso-electric focusing. Hemolytic anemia, cholelithiasis, sickel crisis, infection, tissue ischemia. |
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Term
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Definition
Galactose-1-phosphate uridydil transferase
1. Jaundice, vomiting, diarrhea, failure to thrive, hepatomegaly,cataract, liver failure, brain damage/mental retardation.
Cannot metabolize galactose so no lactose. |
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Term
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Definition
Organic Acid disorders
Anylate C3 tests
metabolic acidosis, hyperammonemia, sepsis like coma |
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Term
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Definition
AA disorder
compare Phe to PHe/Tyrmental retardation, seizures, eczema |
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Term
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Definition
TSH test
Low activity in FTT, jaundice, constipation, hypotonia, horse cry, corase face, large toungue.
treat: isoside supplementation |
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Term
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Definition
BTD enzyme
Seizures, hypotonia, ataxia, deafness, developmental delays, alopecia, skin rash, metabolic acidosis |
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Term
| Congenital adrenal hyperplasia |
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Definition
17-Hydroxy progesterone,
3. Hyperkalemia, hypoatremia, vomiting, dehydration, hypotension, ambiguous genetilia(females), precocious puberty(males) |
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Term
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Definition
CNS hemangioblastomas, Retinal Blastomas, Renal cell carcinoma, Pheochrocytomas, Neuroendocrine, endolymphatic tumors, papillary cystedenomas, broad ligaments.
tumor suppressor gene mutation. |
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