Genetics Flashcards
Trisomy 21
Down Syndrome
most common form of aneuploidy
Trisomy
Trisomy 18
Edward Syndrome
Trisomy 13
Patau Syndrome
most common cause of hypogonadism and infertility in males; most common sex chromosome aneuploidy in humans
Klinefelter Syndrome
IEM which cause sweaty feet/“rancid cheese” odor of urine
isovaleric acidemia
IEM which produces mousey or musty urine odor
Phenylketonuria
IEM which produces rotten fish urine odor
Trimethylaminuria/Dimethylglycine dehydrogenase deficiency
IEM which cause boiled cabbage/rancid butter
Tyrosinemia type 1 // Hypermethioninemia
mainstay treatment of Phenylketonuria
low-phenyalalanine diet
current recommendation for blood phenylalanine level to be maintained
2-6 mg/dL throughout life
impaired synthesis and distribution of this pigment causes Albinism
Melanin
deficiency of BCKDH (Branched chain a ketoacid dehydrogenase) complex results to this IEM
Maple Syrup Urine Disease
Enzyme defect: alpha galactosidase
Fabry disease
enzyme defect: ceramidase
Farber disease
enzyme defect: beta hexosaminidase A
Tay-Sachs disease
enzyme defect: beta hexosaminidase B
Sandhoff disease
enzyme defect: glucocerebrosidase
gaucher disease
enzyme defect: sphingomyelinase
Niemann-Pick Disease
enzyme defect: beta galactocerebrosidase
Krabbe disease
rare fatal autosomal dominant segmental premature aging disease
Hutchinson-Gilford Progeria Syndrome (Progeria)
what happens in children with progeria
they develop premature progressive atherosclerosis, usually die of heart failure
Cardinal characteristic of Fragile X syndrome
testicular enlargement (macroorchidism)
elevated levels of succinylacetone in serum and urine are diagnostic of this IEM
Tyrosinemia Type I
laboratory findings commonly seen in Type I Glycogen storage Disease
Hypoglycemia
Lactic Acidosis
Hyperuricemia
Hyperlipidemia
what is reported in 80% to >90% of female patients with classic galactosemia
Hypergonadotropic hypogonadism
patients with galactosemia are at increased risk of what disease in neonates
E. coli sepsis
Presence of these 2 symptoms is suggestive of Lesch nyhan disease
Dystonia + self mutilation of mouth and fingers
Hall’s criteria to aid in diagnosis of Down Syndrome
Hypotonia
Poor Moro Reflex
Flat face
Upward slanted palpebral fissures
Joint hyperflexibility
Short neck, redundant skin
Short 5th digit with clinodactyly
Single transverse palmar creases
enumerate symptoms that might suggest a genetic metabolic disease and part of the initial clinical approach to a full term newborn infant with a suspected genetic metabolic disorder
Poor feeding
Vomiting (not due to GI abnormalities)
Lethargy
Convulsion — not responsive to IV glucose, calcium or vitamin B6
Coma
