Genetics Flashcards
45 X
Turner Syndrome
Macroglossia, gigantism, neonatal hypoglycemia, flamus nevus of face
Beckwith Wiedeman
47 XXY
Klinefelter
47 + 21
Down Syndrome
47 +18
Edwards Syndrome
47 +13
Patau Syndrome
Brush field spots, single palmar crease, CHD, duodenal atresia, leukemia, Hirschsprungs, MR
Down Syndrome
Fatal in first yr of life, FTT, hypertonia, rocker bottom feet, overlapping fingers
Trisomy 18, Edwards
Caused by nondisjunction in meiosis
Trisomy 21, Trisomy 18
Death by 1 year, microphthalmia, cleft lip/plate, cutis aplasia, VSD or other CHD, holoprosencephaly, also can get rocker bottom feet
Trisomy 13, Patau
20% due to unbalanced translocation
Trisomy 13
Nuchal webbing, puffy hands and feet (pedal edema), coarctation of aorta or bicuspid aortic valve, short stature, infertility.
Turner Syndrome
Risk is not related to maternal age
Turner syndrome
Tall stature, small testes, infertile, gynocomastia, learning or behavior problems,
Klinefelter Syndrome
DiGeorge and Velocardialfacial Syndrome
22q Microdeletion Syndrome
Cardiac defects (conotruncal) Abnormal facies T-cell deficit Cleft palate Hypocalcemia
DiGeorge (CATCH 22)
CHD, learning difficulties, cleft palate, tubular nose, thymus hypoplasia, calcium issues
22q
5p-
Cri-du-chat
Microcephalic, high palate, hyperteloric, epicanthal folds, low broad nose, cat cry
5p-
4p-
Wolf Hirschhorn
Greek helmet facies, growth retardation, microcephaly, mental defect, closure defects (cleft lip/palate, cardiac septal defects, coloboma of eye)
4p- Wolf Hirschhorn
Wilms tumor
Aniridia
GU anomalies
MR
WAGR (AD or somatic mutation)
50% risk for offspring of affected person, male to make transmission, every generation affected
AD
Mode of inheritance: Marfan Syndrome
AD
Mode of inheritance: Homocystinuria
AR
Aortic dilitation/dissection or MVP
Marfan’s
Mode of inheritance: Alagille
AD
Paucity of bile ducts, peripheral pulmonic stenosis, butterfly vertebrae, pointed chin, triangular face, bulbous tip of nose
Alagille
Mode of inheritance: Achondroplasia
AD. 80% are new mutations
Short stature (normal trunk, short limbs), large head,
Achondroplasia
Mode of inheritance: CHARGE
AD. Generally sporadic
Ear anomalies, growth or mental retardation, heart defects, coloboma/CNS disease, choanal atresia/stenosis, genital/urinary anomalies
CHARGE
Mode of inheritance: Osteogenesis Imperfecta
AD
Osteopenia, short stature, multiple fractures, scleral hue changes, dental anomalies, hearing loss
OI
Has mutation in sperm or egg only (not all body cells), unaffected themselves but high likelihood of passing mutation on
Germaine mosaicism
An unaffected sibling has a 2/3 chance of being a carrier
AR
Mode of inheritance: CF
AR
Mode of inheritance: Sickle Cell
AR
Mode of inheritance: Thalassemia
AR
No male to male transmission, all daughters of affected males are obligate carriers, carrier females have 50% chance of passing disease to son
X linked
Mode of inheritance: Duchenne Muscular Dystrophy
X linked
Mode of inheritance: Incontinentia Pigmenti
X linked dominant
Nail dysplasia, cataracts, delayed eruption of teeth, peg shaped teeth, blistering rash
Incontinentia Pigmenti
Mode of inheritance: Glucose-6-Phosphate Dehydrogenase
X linked recessive
Hemolytic anemia when exposed to antimalarials, fava beans
G6PD
Mode of inheritance: Rett Syndrome
X linked dominant
Mode of inheritance: Alport Syndrome
X linked
Mode of inheritance: Aicardi Syndrome
X linked
MECP2 gene
Rett Syndrome
Normal development then microcephaly, hand wringing, seizures, breath holding and air swallowing, autistic features
Rett Syndrome
Kidney failure, deafness, abnormal eye exam
Alport Syndrome
Women have less severe kidney disease then men
Alport syndrome
Agenesis of corpus callosum, chorioretinal lacunae, infantile spasms, lethal in males
Aicardi Syndrome
Results from deletion of chromosome 15 from paternal genes
Prader Willi
Results from deletion of chromosome 15 from maternal genes
Angelman Syndrome
MR, ataxic, jerky arm movements (happy puppet), seizures, inappropriate laughter, maxillary hypoplasia, blond hair, blue eyes, fair skin
Angelman Syndrome
Hypotonia, FTT as infant, obesity as child, small hands and feet, hypogonadism, short stature, learning problems
Prader-Willi
Mode of Inheritance: Beckwith-Wiedemann Syndrome
AD or imprinting
Macroglossia, hemihypertrophy, omphalocele, hypoglycemia, risk for Wilms tumor or hepatoblastoma
Beckwith-Wiedemann
Most common inherited form of MR
Fragile X
Trinucleotide repeat
Fragile X
MR, large ears, tall stature, large head, hands, and feet, macroorchidism after puberty
Fragile X
Microcephaly, smooth philtrum, short palpebral fissures, growth deficiency, developmental delay
Fetal alcohol syndrome
Microcephaly, heart defects, cleft lip, short upturned nose, depressed nasal bridge, nail hypoplasia
Fetal Hydantoin (Dilantin) Syndrome
Risk to fetus is greatest if this virus is contracted at less than 20 weeks gestation
Varicella
Limb hypoplasia, eye damage, developmental delay, circatrical scarring
Fetal Varicella Syndrome
Mode of Inheritance: Cornelia de Lange
AD (most are new mutation)
Poor growth, limb abnormalities, short nose with anteverted nares, long eyelashes, microcephaly, long philtrum, MR, reflux, heart defects
Cornelia De Lange
FTT, small height and weight, NORMAL head circumference, triangular face, hemihypertrophy, cafe au lait, delayed bone age, reflux
Russell-Silver
Mode of Inheritance: Noonan Syndrome
AD
Hypertelorism, low set ears, down slanting palpebral fissures, webbed neck, cryptorchidism, congenital heart disease including PULMONARY VALVE dysplasia
Noonan Syndrome
Chromosome 7q11 Microdeletion
Williams Syndrome (dx with FISH)
Short stature, short nose, puffy eyelids, full mouth, MR, cocktail party personality (loquacious), SUPRAVALVULAR AORTIC STENOSIS
Williams Syndrome
