Ages and Stages
What age group am I? I exhibit: high risk behaviors, peer pressure, limit testing
I have clenched fists, hypertonia, and rocker bottom feet
What is Edwards (Trisomy 18)
this is a progressive autosomal dominant disorder of motor, cognitive, and psychiatric disturbances such as chorea, psychosis, and bradykinesia)
What is Huntington
(trinucleotide repeat in CODING region)
Note: most trinucleotide repeats in coding regions are CAG → polyglutamine tracts (lead to neuronal destruction)
These 2 strains of this virus are most likely to cause cervical cancer
HPV 16 and 18
I am the only method that prevents against STIs
How old am I? I hop on one foot, can tell a story with 2+ events, can count to 10, and even can have a back and forth conversation with 3+ exchanges!
What is 5 years old
I am a tall, skinny male with long legs and I am not the sharpest tool in the shed. What is my condition and chromosome situation?
What is Klinefelter male → 47, XXY
this disorder features: hypercalcemia, full lips, and supravalvular aortic stenosis is a concern
What is Williams
Chr. 7q11.23 microdeletion (7 letters in William)
Elastin gene at 7q11.23 (a connective tissue disorder)
These two female structures have effective screening tests
What are the cervix and breasts
I am the best emergency contraception
Copper IUD
when do you screen a baby for anemia
what is 12 months
anemia + infant = 12 letters
I am a baby girl born with lymphadema and a webbed neck, and I have a horseshoe shaped kidney seen on ultrasound. What is my diagnosis/chromosome situation
Turner syndrome female → 45, X MOSTLY (can be others)
Monosomy (45, X) is 55% (80% have missing paternal X) Mosaic (45,X/46XX), isochromosomes (46,X,i(X)), Ring, deletion
concerns for this disorder/syndrome involve: congenital heart disease in infants, higher risk of Alzheimer's, and hypotonia
What is Down syndrome
This benign hyperplasia is associated with increased estrogen, obesity, and AUB is the hallmark symptom
What is Endometrial intraepithelial neoplasia (EIN)
give me 3 contraindications for taking estrogen
migraine with aura, history of DVT/PE, breast cancer, uncontrolled hypertension, smokers > 35, known thrombophilia
how old am I? I can sit all by myself, roll back to front, and even feed myself with a bottle
What is 6 months
(note rolling front to back at four months cause four and front start with f)
I experience seizures, have ocular hypertelorism, and a beaked nose with micrognathia given me a greek helmet appearance. What is the disorder/chromosome situation?
Wolf-Hirschorn Syndrome
4p - loss of terminal material from short arm of Chr. 4 (deletion) --> wolf has 4 letters
I got a bunch of these GAA repeats giving me low expression of the Frataxin gene which results in mitochondrial dysfunction due to iron accumulation. BTW I also have pes cavus, scoliosis, and like to bob my head back and forth (titubation)
Friedreich’s Ataxia (FRDA) (trinucleotide repeat in noncoding region)
This cancer is associated with abdominal fullness, urinary issues, and you can help prevent is by taking OCPs, but if you want a screening test you are out of luck
What is ovarian cancer
Before my period I get a depressed mood, irritable, tired, food cravings, and I feel bloated and a headache with tender breasts. What is my diagnosis and how should you treat me (first line)
PMDD and SSRIs and SNRIs
Use the M-CHAT-R to screen for autism at these 2 ages
18 and 24 months
I have hypocalcemia, thymic aplasia, and am told I am at an increased risk for schizophrenia. What is my disorder/chromosome situation?
Velocardiofacial syndrome (aka DiGeorge syndrome, Shprintzen syndrome)
Microdeletion at chromosome 22q11
I have a high risk for: embryonal tumors like the Wilms tumor in the kidney and neonatal hypoglycemia. Oh and I have a pretty large body.
Beckwith-Wiedermann syndrome
congenital overgrowth syndrome. 11p15
Mostly sporadic but can be autosomal dominant
The most common elements found in this are of ectodermal origin (skin, sweat, and sebaceous glands, hair, sebum) and it contains high fat content
Germ cell tumors → benign cystic teratoma, aka dermoid cyst, aka dermoid
I have mild premenstrual symptoms but I wouldn't say they impact my daily routine in any way. What is this called?
What is Molimina