Genetics Flashcards
Ingestion during preggers causes: Hypoplastic nasal bridge, chondrodysplasia punctata
Warfarin
Ingestion during preggers causes: microcephaly, CHD with septal defects and PDA and FAS
Ethanol
Ingestion during preggers: Facial and ear anomalies, CHD
Isotretinoin
Ingestion during preggers: Ebstein anomaly, ASD
Lithium
Ingestion during preggers: Hypoplastic nails, IUGR, cleft lip and palate
Phenytoin
Ingestion during preggers: Congenital goiter, hypothyroidism
Radioactive iodine
ingestion during preggers causes: Virilization of female
Testosterone like drugs
Dental enamel hypoplasia, altered bone growth
Tetracycline
Phocomelia, CHD, TOF or septal defects
Thalidomide
Typical facies, CHD (TOF, TGA, HLHS)
Trimethadione
Spina bifida
Valproate
List of Autosomal Dominant diseases
AAHHMNCTV
Achondroplasia, adult PKD, Hereditary angioedema, Hereditary Spherocytosis, Marfans, Neurofibromatosis, protein C def, Tuberuos sclerosis, vWDx
List of Autosomal Recessive diseases
CCGGIPSTW
CAH, CF, Galactosemia, Gaucher, infantile PKD, PKU, sickle cell, Tay-Sachs, Wilson
Causes pregnancy loss, congenital malformations and mental retardation; often arise de novo during gametogenesis
Chormosomal disorders
–see family hx for spont abortions or higher-than-change frequency of children with chromosomal problems
How do we work up chromosomal copy number abnormalities
karyotype, FISH or micorarray.
X linked diseases
Bruton agamma, CGD, Color blind, Duchenne MD, G6PD, Hemophilia A/B, Lesch-Nyhan, Ornathine transcarboxylase defi
Syndrome causing: congenital heart defect (typically pulmonary valve stenosis; also atrial septal defect and hypertrophic cardiomyopathy), short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge.
Noonans or ‘male turners’ seen in males and females
What does galactosemia, fructosemia, tyrosinosis and G6P deficiency have in common
All are congenital deficiency of enZ; will accumulate metabolic precursors that damage vital organs
Both galactose and fructose make urinary reducing substances; all these are Autosomal Recessive inheritance
How does tyrosinosis present?
Acute liver failure in infancy; d/t lack of enZ thus build up tyrosine and it’s metabolites in liver, kidney and CNS
When and how does G6P defiency present?
around 3-4 mo age with FTT, hypoglycemia, hepatomegaly and acidosis
12 yo presents with dizziness; workup shows HgB of 8 and 4,000 WBC with plats of 98,000. PE shows enlarged spleen and XR shows ‘Erlenmeyer flask’ apperance of femur. What would you expect to see on BM examination, what is the disease? How do you diagnosis dx?
Gaucher disease
BM show big cells engorged with glucocerebroside; have anemia/leukopenia/thrombocytopenia as BM is replaced by these cells
Dx with measuring Glucocerebrosidase level
Mom is 8 mo pregnant and experiencing weight loss, anxiousness, feels warm and has racing heart. What would we worry about in her newborn
mom have thyrotoxicosis 2/2 to Graves; has thyrotropin receptor stimulating antiB that cross placenta; baby will have tachy, tachypnea with HEART FAIL, hyperactivity and irritability with low birth wt and microcephaly with vomiting and diarrhea.
When is puberty ‘delayed’ in male? What are signs of starting of puberty on exam?
What test would you get if you were concerned about delayed puberty?
By 14 should show signs of puberty
penis >2.5cm or testes >3.0cm early signs
Radiograph of wrist is most helpful to determine if PE matches with bone age
Child is deaf and had two different colored irises with lateral displacement of inner canthi and white forelock. What is inheritance pattern?
Waardenburg; Autosomal dominant
Child has episodes of headache, tachycardia and hypertension… What can this tumor be associated with?
Pheocromocytoma
Tuberos sclerosis, Sturge-Weber, Ataxia-telangiectasia or part of MEN
How does untreated or unrecognized galatosemia present in neonate
w/in first weeks of life baby with have FTT and emesis, won’t gain weight, become jaundiced with elevated direct bili and hepatosplenomegaly with elevated LFTs and low serum glucose
What is the inheritance pattern of achondroplasia
Auto Dominant
What are signs of congenital hypothryoidism?
constipation, prolong jaundice, sluggish, macroglossia, poor feeds with apnea and sleepy
PE of newborn will show abdominal distension and sleepy infant
*give oral sodium-L-thyroxine right away
1 yo with course face, cloudy cornea, hirsutism and hepatosplenomegaly. Normal at birth but now short for age
Hurler
Autosomal storage disease; alpha-1-iduronidase deficiency build up dermatan sulfate
Kid has MR, short with brachydacytly of 4/5th digits, obesity and round face with subcapsular cataracts as well as perivascular calcifications of basal ganglia. What is diagnosis and what is patient’s calcium and phosphorus levels
Albright hereditary pseudohypoparathyroidism
Low Calcium
High Phosphorus with high parathyroid levels
How does a baby with CAH present?
first 5-15 days of life with anorexia, vomitting, diarrhea and dehydration. Will see hypoglycemia, hyponatremia, hyperkalemia may see increased pigmentation. Boys may have virilization.
Kiddo has diapers that turn black when exposed to air with normal PE. Urine has reducing substances when tested with ferric chloride. Dx? and how does this present in adulthood?
Homogentisic acid oxidase defieincy from Alkaptonuria
children Asx and as adult see ochronosis (bluish pigment of cartilage and fibrous tissue devos; may have arthritis)
What organ systems does Wilson’s affect?
Liver dx with neurologic and behavioral change from buildup of copper as well as renal tubular dsfnx and kayser-fleicher rings; have Cu deposition in tissues with low cerumoplasmin
What does the serum Ca and serum Phos look like in child with medullary carcinoma
C cells secrete calcitonin–> BUT pt usually has normal Ca and normal Phos
What are the electrolyte abnromalities seen in CAH and why?
Hyponatremia and Hyperkalemia
mineralcorticoid (aldosterone) and cortisol is affected thus low aldosterone impairs exchange of K for Na causing hypoNa and hyperK
What is the pathogenesis in central diabetes insipidis and what are associated electrolyte imbalances?
No vasopressin (ADH) production thus RT are impermeable to water--> excreation of hypotonic urine w/ net loss of water and hemoconcentration of K and Na HyperNa and HyperK
What are labs like in patient with nephrogenic diabetes insipidus?
labs are similar to central DI with release of hypotonic urine and hemoconcentration of Na and K: hyperK and hyperNa
What are electrolyte findings in patient with hyperaldosteronism
More aldosterone = enhanced renal tubular sodium-potassium exchange
HypoK, HyperNa, Hyperchloremia and alkalosis
What is the defect in children with Addisons? What happens to their electrolytes?
Deficiency of glucocorticoids and mineralcorticoids. IMpaired resorption of Na and excreation of K and H+ at distal renal tubules with loss of water
-if compensated Addisons have relatively normal labs; if in crisis have HypoNa, HyperK and hsock
