Genetics Flashcards
Waardenburg Syndrome
Autosomal dominant
White forelock of hair, ocular albinism, heterochromia
Apert Syndrome
Autosomal dominant
Early suture closure, choanal atresia, syndactyly
Nail Patella Syndrome
Autosomal dominant
Abnormal nails, especially thumb nails
Noonan Syndrome
Autosomal dominant
LOOKS LIKE TURNER
Pulmonic stenosis, pectus, webbed neck, HOCM
Look for a normal karyotype
Achondroplasia
Autosomal dominant
Die from compression of cervicomedullary junction, normal IQ
Peutz Jeghers
Autosomal dominant
Hyperpigmentation macules on lips and oral mucosa, hamartomatous polyps
Gardner Syndrome
Autosomal dominant
Subtype of FAP, may have extra teeth, other tumors
Retinoblastoma
Autosomal dominant/sporadic
Look for eye problems + chromosome 13, osteosarcomas
Retinoblastoma
Autosomal dominant/sporadic
Eye problems + chromosome 13, osteosarcoma
HOCM
Autosomal dominant
Acute Intermittent Porphyria
Autosomal dominant
Abd pain, confusion, weakness
May be infected with Hep C as well
Retinitis Pigmentosa
Autosomal dominant
Retinal atrophy that leads to blindness
Romano-Ward Syndrome
Autosomal dominant
Hereditary long QT
Tuberous sclerosis and neurofibromatosis
Autosomal dominant
Phenylketonuria
Autosomal recessive
Alpha-1 Antitrypsin
Autosomal recessive
Tay-Sachs
Autosomal recessive
Hurlers Syndrome
Autosomal recessive
Ataxia telangiectasia
Autosomal recessive
Sickle Cell and Thalassemia
Autosomal recessive
Wilson’s Disease
Autosomal recessive
Alpers Syndrome
Autosomal recessive
Progressive neurological disease with ataxia, cognitive defects, seizures
Die by 10 years
Cystic fibrosis
Autosomal recessive
Kartagener syndrome
Autosomal recessive
Immobile sperm, respiratory problems
Galactosemia
Autosomal recessive
Johanson Blizzard Syndrome
Autosomal recessive
Pancreatic insufficiency, hypoplasia of nostrils
Familial Hypophosphatemic Rickets
X linked dominant
Familial Hypophosphatemic Rickets
X linked dominant
Aicardi Syndrome
X linked dominant
Missing corpus callosum, infantile seizures
Aicardi Syndrome
X linked dominant
Missing corpus callosum, infantile seizures
Alport Syndrome
X linked dominant
Renal disease + sensorineural loss
Fragile X Syndrome
X linked dominant
Intellectual disability, macro orchidism, long face
Chronic granulomatous disease
X linked recessive
May be diagnosed with serratia infection
No effect to cell lines
Hard to fight off catalase positive organisms
Duchenne muscular dystrophy
X linked recessive
Always have elevated CK levels
Wheelchair by 7-8, unable to walk by 13
Die due to respiratory involvement
G6PD
X linked recessive
Jaundice within first 24 HOL, hemolysis
Heinz bodies
Hemophilia A and B
X linked recessive
Factor VIII and IX
PTT elevated
Hunter Syndrome
X linked recessive
Nephrogenic diabetes insipidus
X linked recessive
Fox A1 transcription factor deficiency
Ornithine Transcarbamylase
X linked recessive
Ornithine transcarbamylase
X linked recessive
Androgen insensitivity syndrome
X linked recessive
Testicular feminization due to androgen receptor deficiency
XY genotype
Wiskott Aldrich Syndrome
X linked recessive
Small platelets, thrombocytopenia, eczema, frequent infections
PHACES Syndrome
Posterior fossa malformation
Hemangioma (on face)
Arterial cerebral anomaly (strokes)
Cardiac anomalies
Eye anomalies
Sternal defect
