550 exam 3

No male to male transmission

All affected males pass to daughters

• Rett syndrome is example
• neurodevelopmental disorder, loss of spoken language, gait

Always inherit mother's

Nervous system, eyes, skeletal muscle, heart, liver, GI, kidneys, pancreas

• Recur in families
• do not follow patterns
• multiple genes/environmental factors
• more common among close relatives
• high incidence vs mutations

ex: cleft lip/palate, heart defects, neuroal tube defects

• Concordance: both have it
• Discordance: one has it

Greater concordance in identical twins vs fraternal is evidence of genetic component

elongated head, clenched hands, horshoe kidney, epicanthal folds, language decreased, early death from heart problems, seizures, some live into 20's

cleft lip/palate, sloping forehead, heart defects, development delays. Most die within first year

Mosaic trisomy 13: only trisomy in some cells

• Sounds like crying cat
• deletion on chromosome 5
• slanted eyes, changes at epiglottis and vocal cords

• 45 X
• Reduced life expectancy, usually by heart stuff

• Tall, no malformation patterns
• delay in motor milestones, poor coordination
• language problems
• usually require special ed

• Klinefelter syndrome
• Male phenotype, long legs, obese usually later on, small genitals

Usually behavioral problems, long fingers

• Deletion on 15
• Hypotonia, obesity, small hands and feet, hypogonadism

• maternal deletions of 15
• seizures, developmental delay, ataxic gait

affects connective tissue. Affects bones, joints, lungs, eyes, heart and vessels

intellectual disability, microcephaly, speech problems, seizures, behavior issues. Normal if treated

• example of an aminoacidopathy
• testing, plasma amino acids or urine organic acids

build up of branched chain amino acids that can't be broken down. leucine is neurotoxic

presents early, poor feeding, vomiting, seizures, stroke, coma. 

Normal if treated early

• build up of ammonia because of problem somewhere in cycle
• all autosomal recessive except OTC deficiency (x-linked)
• restrict protein in diet

• metabolic acidosis with ketosis and elvated anion gap
• can mimic sepsis
• poor feeding, lethargy, vomiting, coma
• low rotein diet

testing: Urine organic acids, plasma amino acids can work, and plasma acylcarnitines (PAC)

• low ketones
• related to SIDs because can't mobilze energy through night
• autosomal recessive
• frequent feedings to treat, lower fat diet, high carb

testing: plasma acylcarnitines is good

• build up of galactose
• enlarged liver, kidney damage, brain damage, cataracts
• treatment is complete galactose/lactose restrition
• speech/language therapy