Genetics Flashcards by Jen Lim

45 X

Turner Syndrome

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Macroglossia, gigantism, neonatal hypoglycemia, flamus nevus of face

Beckwith Wiedeman

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47 XXY

Klinefelter

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47 + 21

Down Syndrome

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47 +18

Edwards Syndrome

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47 +13

Patau Syndrome

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Brush field spots, single palmar crease, CHD, duodenal atresia, leukemia, Hirschsprungs, MR

Down Syndrome

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Fatal in first yr of life, FTT, hypertonia, rocker bottom feet, overlapping fingers

Trisomy 18, Edwards

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Caused by nondisjunction in meiosis

Trisomy 21, Trisomy 18

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Death by 1 year, microphthalmia, cleft lip/plate, cutis aplasia, VSD or other CHD, holoprosencephaly, also can get rocker bottom feet

Trisomy 13, Patau

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20% due to unbalanced translocation

Trisomy 13

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Nuchal webbing, puffy hands and feet (pedal edema), coarctation of aorta or bicuspid aortic valve, short stature, infertility.

Turner Syndrome

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Risk is not related to maternal age

Turner syndrome

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Tall stature, small testes, infertile, gynocomastia, learning or behavior problems,

Klinefelter Syndrome

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DiGeorge and Velocardialfacial Syndrome

22q Microdeletion Syndrome

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Cardiac defects (conotruncal)
Abnormal facies
T-cell deficit
Cleft palate
Hypocalcemia

DiGeorge (CATCH 22)

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CHD, learning difficulties, cleft palate, tubular nose, thymus hypoplasia, calcium issues

22q

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5p-

Cri-du-chat

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Microcephalic, high palate, hyperteloric, epicanthal folds, low broad nose, cat cry

5p-

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4p-

Wolf Hirschhorn

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Greek helmet facies, growth retardation, microcephaly, mental defect, closure defects (cleft lip/palate, cardiac septal defects, coloboma of eye)

4p- Wolf Hirschhorn

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Wilms tumor
Aniridia
GU anomalies
MR

WAGR (AD or somatic mutation)

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50% risk for offspring of affected person, male to make transmission, every generation affected

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Mode of inheritance: Marfan Syndrome

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Mode of inheritance: Homocystinuria

Aortic dilitation/dissection or MVP

Marfan's

Mode of inheritance: Alagille

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

Osteopenia, short stature, multiple fractures, scleral hue changes, dental anomalies, hearing loss

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

Mode of inheritance: CF

Mode of inheritance: Sickle Cell

Mode of inheritance: Thalassemia

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

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