Genetic Disease Flashcards
What often causes Trisomy 21 (Down Syndrome)?
Meiotic Nondisjunction
What are the signs of Trisomy 21?
Flat face
Epicanthal folds with upslanting eyes
Single palmar crease
Extra neck folds
What may be seen on prenatal US with Trisomy 21?
Nuchal folds
What 3 conditions are commonly associated with Trisomy 21?
AA instability
Duodenal Atresia
Cardiac defects - AV > ASD > VSD
What 3 conditions are Trisomy 21 kids at an increased risk for?
ALL
Hypothyroidism
Early onset Alzheimers
What is another name for Trisomy 18?
Edwards Syndrome
What are the signs of Trisomy 18?
Rocker bottom feet
Low-set ears
Overlapping fingers
Small jaw with prominent occiput
Horseshoe kidneys are often associated with which trisomy?
Trisomy 18
What is another name for Trisomy 13?
Patau Syndrome
What are the signs of Trisomy 13?
Cleft lip/palate
Holoprosencephaly
Scalp lesions
Polydactyly
Omphalocele
Klinefelter Syndrome chromosomal change?
47 XXY
Signs of Klinefelter Syndrome (47XXY)?
Male with tall stature, testicular atrophy, gynecomastia and female hair distribution
What is the treatment for Klinefelter Syndrome?
Testosterone
Turner Syndrome chromosomal change?
45 XO
Signs of Turner Syndrome (45 XO)?
Female with short stature, shield chest, widely spaced nipples, webbed neck, ovarian dysgenesis
What cardiovascular anomalies are seen with Turner Syndrome?
Coarctation of the aorta
Bicuspid aortic valve
What may be seen in infant life with Turner syndrome?
Lymphedema of the hands and feet
What is the treatment for Turner Syndrome?
Estrogen
Why will primary amenorrhea occur with Turner Syndrome?
Ovarian dysgenesis
What causes Cystic Fibrosis?
AR mutation in CFTR gene (Cl- channel) on chromosome 7
What may be the first sign of Cystic Fibrosis?
Meconium Ileus
- Failure to pass meconium
An elevated sweat chloride test indicates?
CF
CF patients have thick mucus and recurrent respiratory infections with what 2 pathogens?
Staph Aureus
Pseudomonas Aeruginosa
Why do CF patients have Steatorrhea (fatty stools)?
They have exocrine pancreatic insufficiency, so they have less pancreatic enzymes which means they cannot absorb fat –> excreted in stool
Why may males with CF be infertile?
Absence of vas deferens
What vitamins will be deficient with CF and what can that cause?
Fat soluble ADEK
- Night blindness, rickets, neuropathy, coagulopathy
What are the initial treatments for CF?
Chest physical therapy, bronchodilators/ICS
Pancreatic enzymes and Vit. ADEK
High protein/calorie diet
What drug enhances CFTR channel activity for CF patients?
Ivacaftor
What is Ivacaftor?
A drug for CF that enhances CFTR activity
Fragile X involves what trinucleotide repeats in what gene? It is inherited how?
CGG in FMR1 - effects methylation/expression
- X - linked Dominant
What are the 4 signs of Fragile X?
Large ears
Large jaw
Large gonads
Autistic behaviors
Friedreich Ataxia involves what trinucleotide repeats and what abnormal protein?
GAA repeats cause an abnormal frataxin protein
What are the signs of Friedreich Ataxia?
Gait ataxia
Diabetes
Cardiac manifestations
What causes Phenylketonuria and what will be elevated? What will be low?
Deficient Phenylalanine Hydroxylase or Low TH4
- Elevated Phenylalanine
- Low Tyrosine
Signs of Phenylketonuria?
Musty urine odor
Fair skin, blonde hair, blue eyes
Eczema
What is deficient with Gaucher disease and what are manifestations?
Deficient Glucocerebrosidase
= Neurologic decline + anemia/thrombocytopenia
What is deficient with Niemann Pick Disease and what are the manifestations?
Deficient Sphingomyelinase
= Cherry red spot + hepatosplenomegaly
What is deficient with Tay Sachs Disease and what are the manifestations?
Deficient Hexoaminidase A
= Cherry red spot + startled + regressions
How is Hurler Syndrome inherited and what will be present?
AR
= Corneal clouding
How is Hunter Syndrome inherited and what will NOT be present?
X-linked recessive
= NO corneal clouding
