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Flashcards in Genetics Deck (43):

What are the autosomal dominant disorders?

"Those DOMINANT WAALBERG boys are making a movie and are APT to recruit MARTIANS and MOONMEN for it. They make them workout to HYPERTROPHY their muscles to get in shape for the movie. Then they give them a makeover and give them LONG CUTE ROMANO Italiano hair and paint their NAILS with hands resting on their PATELLAE. For the medical mystery, they place TUBERS and I NEUROFIBROMA on the DWARF character before BLASTING his RETINA. They recruit MICK JAGGER to promote their movie while singing at the GARDEN before he goes HUNTING with his HYPER IGE rifle."

DOMINANT = autosomal dominant
WAALBERG = Waardenberg syndrome
APT = Apert
MARTIANS = Marfans
MOONMEN = Noonan syndrome
HYPERTROPHY = Hypertrophic cardiomyopathy
LONG CUTE ROMANO = Romano-Ward Syndrome (hereditary long QT)
NAILS-PATELLA = Nail Patella Syndrome
TUBERS = Tuberous sclerosis
I NEUROFIBROMA = Neurofibromatosis Type I
DWARF = Achondroplasia
BLASTING RETINA = Retinoblastoma
MICK JAGGER = Peutz-Jegher Syndrome
GARDEN = Gardener syndrome
HUNTING = Huntington's
HYPER IGE = Hyper IgE syndrome


What are the features of Waardenburg syndrome?

"Imagine as scary WAARDEN with bleached WHITE HAIR walking around the jail grounds. He wears an odd pair of multi colored sunglasses. One lens is GREEN and the other is BLUE. He always seems to be yelling angrily, but it's probably just because he's partially DEAF."

- Albinism
- White forelock of hair
- Ocular albinism
- Heterochromia: different colored eyes
- Deafness


What are the features of Apert syndrome?

- Early cranial suture closure (pear shaped head)
- Bilateral syndactyly (fused digits)
- Choanal atresia
- Cleft palate


What are the features of nail patella syndrome?

- Abnormal nails
• thumbnails most often, then fingernails, then toenails
• mild - severe: pitting, ridging, splitting, discoloration, absence
- patella deformities: small, irregular, absent


What are the features of Noonan syndrome?

- Pulmonic stenosis
- Pectus excavatum
- Webbed neck
- Low set ears
- Hypertrophic obstructive cardiomyopathy
- Normal karyotype
- Affects boys and girls


What are the features of achondroplasia?

- Most cases are due to sporadic mutations
- Short
- Macrocephaly
- Mild hypotonia
- Short arms and legs
- Normal torso
- Trident like fingers
- Genuine Varum deformity
- Normal IQ
- Cause of sudden death is compression of the cervicomedullary junction
- Reproductive fitness is severely affected


What are the features of Peutz-Jeghers syndrome?

2/3 Criteria:
- Family history
- Hamartomatous G.I. polyps
- Benign hyperpigmented macules on the lips or oral mucosa

- Polyps can lead to obstruction or intussusception, so should be removed
- Increased lifetime risk of cancer


What are the features of Gardner syndrome?

- Pre-malignant polyps throughout the intestines
- Supernumerary teeth
- Tumors


What are the features of retinoblastoma?

- Leukocoria
- Increased risk of osteogenic sarcoma of a long bone in the future
- Strong genetic component, but also a high rate of spontaneous mutations


Name 4 autosomal dominant disorders?

- Von Willebrand factor deficiency
- Hypertrophic obstructive cardiomyopathy
- Acute intermittent porphyria
- Retinitis pigmentosa


What are the features of acute intermittent porphyria?

- primary symptoms (5 P’s)
• Pain: severe abdominal pain without tenderness on palpation
• Palsy/paralysis: neurological symptoms (polyneuropathy, seizures, weakness, paralysis)
• psychiatric symptoms
• port wine-colored urine
• precipitated by an exposure

- Disorder of Heme synthesis
- Produces symptoms when there is accumulation of a metabolite in the cytoplasm
- Abdominal pain
- Confusion
- weakness
- Headaches
- Triggers: infection, low carbohydrate intake, medications (seizure, sulfa drugs)


What are the features of retinitis pigmentosa?

Retinal dystrophy that eventually leas to blindness


What are the autosomal recessive disorders?

"PAT HAS WACK GAS which made me HURL in the BACK SEAT of an AUTOmobile."
P = Phenylketonuria
A = Alpha-1-antitrypsin deficiency
T = Tay Sachs disease
H (& HURL) = Hurler's Syndrome
A = Ataxia telangiectasia
S = Sickle cell anemia & Thalassemia
W = Wilson's disease
A = Alpers Syndrome
C = Cystic fibrosis
K = Kartagener Syndrome
G = Galactosemia
BACK SEAT = recessive
AUTOmobile = autosomal


What are the features of Alpers syndrome?

- Progressive neurologic disease
- patients do not meet milestones
- ataxia
- cognitive deficits
- seizures
- liver disease
- die by age 10


What are the features of Kartagener syndrome?

Immotile cilia and sperm
Lung issues


What are the features of Johanson-Blizzard syndrome?

- Multi system congenital disorder
- pancreatic insufficiency
- hypoplasia of the nostrils
- mental retardation


What are the features of Aicardi syndrome?

- X-linked dominant disorder
- Missing corpus callosum
- Infantile spasms or epilepsy
- Mental retardation


What are the features of Alport syndrome?

"At Al's Port, X marks The spot where the boats have to dock." Al has a kidney shaped boat which crashes into his port because he has poor vision and poor hearing. He couldn't see or hear everyone on the dock yelling at him to slow down.

- X-linked dominant inheritance
- Findings are more severe in males
- Renal disease which starts with hematuria and progresses to end stage renal disease
- Bilateral sensorineural hearing loss
- Eye/vision problems
- Females only have hematuria that can progress to ESRD


What are the features of nephrogenic diabetes insipidus?

- X-linked recessive
- Lack of ADH sensitivity causing polyuria


What is the most common cause of mental retardation?

Down syndrome


What is the most common inherited cause of mental retardation?

Fragile X syndrome


What is the most common form of Down syndrome?

Trisomy 21
Due to non-disjunction of chromosome 21


Trisomy 21 down syndrome

- Do not need a karyotype of mom and dad - they will have normal chromosomes
- Risk of recurrence in future pregnancies: mother's age related risk + 1%


Trisomy 18

Trisomy Eighteen = Edwards

Ed is an 18-year-old heavy metal rocker. He is on stage, giving a concert. He's walking around on stage with his rocker bottom shoes throwing his clenched fists with overlapping fingers in the air. He trips on his rocker bottom shoes and begins to fall. His bandmates try to save him with a Horseshoe kidney, but he falls anyways, shoving his jaw into his occiput (micrognathia, prominent occiput), and his pectus excavatum gets shoved into his chest, poking a hole into his heart (ASD, VSD).

Death en utero or by age 1.


Trisomy 13

Patau Syndrome

Trisomy Thirteen = paTau


M = microphthalmia
C = cardiac defects
R = renal (cystic kidneys)
C = cleft lip/palate
E = ears are low-set
P = polydactyly
H = head with punched out scalp lesions


Cleft lip and/or palate is associated with:

"Do a Thorough job to get that hole PACT."
D = DiGeorge Syndrome
T = Treacher Collins Syndrome
P = Pierre-Robin Syndrome
A = Apert Syndrome
C = Crouzon Syndrome
T = Trisomy 13


Williams Syndrome

Dr. Williams is smart and is good with numbers: 5-2-2-2

- 5 Face: flat nasal bridge, upturned nose, smooth philtrum, wide spaced teeth, elfin face
- 2 Neuro: mild MR, cocktail party personality
- 2 Cardiac stenoses: SUPRAvalvular aortic stenosis, peripheral pulmonic stenosis
- 2 Levels: hypocalcemia, hypothyroid


What are the features of Holt Oram syndrome?

- Absent or hypoplastic radius and thumb make
- Triple-jointed thumb
- Septal defects (ASD, VSD)


What are the features of Crouzon syndrome?

- Craniosynostosis
- Prominent forehead
- Proptosis
- Cleft lip/palate


Which disorders have hemihypertrophy?

You don't want a hemihypertrophy monster coming after you - Be Kind, Please Rewind.
B = Beckwith-Wiedemann Syndrome
K = Klippel-Trenauny Syndrome
P = Proteus Syndrome
R = Russel-Silver Syndrome


Which syndromes have hypospadias?

S = Silver-Russel Syndrome
L = Laurence Moon Biedl Syndrome
O = Opitz Syndrome
B = Beckwith-Wiedemann Syndrome


What does CHARGE Syndrome stand for?

C = Coloboma
H = Heart defects
A = Atresia (choanal)
R = Retarded growth
G = Genitourinary abnormalities
E = Ear abnormalities


What are the features of Klinefelter's syndrome?

"Mr. KLINE FELT some Bar Guys."
M = Male phenotype
K = Karyotype XXY
L = Long stature
I = Infertility
N = Nondysjunction of sex chromosomes
E = Educational deficits
F = FSH elevated
E = Estradiol:Testosterone ratio elevated
L = LH elevated
L = Learning disabilities
T = Testes small, low testosterone
B = Barr body +
G = Gynecomastia


What are the features of Marfan syndrome?

"Michael Phelps is a STARCHLESS Jock."
M = Mitral valve prolapse
P = Pectus deformity
S = Speech disorder
T = Tall stature
A = Aortic dissection
R = Regurgitation (aortic or mitral)
C = cardiac
H = High arched palate
L = Long upper extremities and fingers
E = Esophageal perforation
SS = Superior Subluxation of the lens
J = Joint hypermobility


What are the features of Ehlers Danlos syndrome?

- Marfan syndrome +
- Skin: laxity
- Skin: contractures
- Skin: nodules
- Skin: easy bruisability
- Skin: poor wound healing
- Skin: cigarette paper scars


What are the features of homocystinuria?

The physical features of Marfan syndrome +3 C's and a D.
- Cognitive defects
- Increased coagulability
- Cysteine supplementation
- Downward/posterior lens displacement


What are the features of Turner syndrome?

"Turner patients look like CLOWNS."
C = Coarctation of the aorta
L = Lymphedema (pedal edema)
O = Ovarian failure (streak ovaries)
W = Webbed neck
N = Nipples are widely spaced
S = Short
Small breasts
Small 4th and 5th digits
Shoe - horseshoe kidney
Diagnose by karyotype.


What infections are patients with CGD most susceptible to?

"The enzyme deficiency in these patients makes their neutrophils unable to destroy the CASES of these infectious organisms."

E. Coli


What is the inheritance pattern for duchenne muscular dystrophy?

X-linked recessive
There is a very high rate of spontaneous mutations, so Mom does not have to be a carrier, and does not have to have a positive family history.


What are the clinical features of Angelman Syndrome?

Angelic MAIDS
- AngelMan has no Mama gene = paternal genes only - paternal imprinting
Mental retardation
Ataxia (puppet gait)
Improper laughing
Delayed speech


What are the clinical features of Prader Willi Syndrome?

Prader has no Papa gene = maternal genes only - maternal imprinting

"Prader Willi patients will eat all of the HAMHOCS because they have such a huge appetite."
Almond shaped eyes
Mental retardation
Hands are small
Cock is small


What are the clinical features of Beckwith Weidmann syndrome?

"Becky is a big baby."
- Big head
- Big tongue
- Big body (hemihypertrophy)
- Big organs = big pancreas ➡️ secretes too much insulin ➡️ neonatal hypoglycemia
- Big organs cannot be contained in abdomen ➡️ omphalocele (or umbilical hernia)
- "She wants to get bigger." Increased risk of malignancy - Wilms tumor, hepatoblastoma


What are the clinical features of Russell silver syndrome?

"Imagine a TINY Street fighter named Russell. His face is made out of a SILVER TRIANGLE (triangular face) and he has small HOOKS for PINKY FINGERS (clinodactyly). He may be small, but he has HEMIHYPERTROPHY that makes him a good fighter. As an added strategy, his HYPOSPADIAS sprays urine all over the floor making his opponents slip and fall."