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DIT repro Flashcards

1
Q

Layers of penis:

A 
Outer dermis
Dartos fascia
Deep Buck's Fascia
Tunica albuginea
then CORPUS CAVERNOSA or OR SPONGIOSA (latter is around urethra)
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2
Q

Nerve for boner?

A

Pelvic Nerve (parasympthatic)

NO makes more cGMP and sildenafil prevents breakdown

NE causes more Ca++ in the muscle and smooth muscle contraction and vasoconstriction and fight or flight so you don’t want blood to penis then)

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3
Q

Nerve for emission?

A

Hypogastric nerve

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4
Q

Nerve for ejaculation?

A

Pudendal nerve (visceral and somatic nerve)

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5
Q

LIgaments for uterus

A

C for Cervix and Cardinal ligament holding down Cervix

Broad uterus is BIG (everything else to pelvic wall) Uterus, ovary, fallopian tube, cut during hysterectomy)

Suspensory ligament of ovary suspends ovary to pelvic wall

Ovarian ligament is ovary to uterus

Round ligament of uterus is from gubernaculum

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6
Q

Which ligament holds ovarian vessels?

Uterine vessels?

A

Suspensory ligaemnt

Cardinal ligament

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7
Q

Venous drainage of Left vs right gonadal veins? clinical significance?

A

Left is to Renal vein to IVC (takes a right angle, so vericocele more common in left b/c 90 degree angle and blood leaves slower)

Right is to IVC directly

Adrenals do the same thing! Q bank damn!

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8
Q

Lymphatic drainage of ovaries/testes?

Howabout distal vag/vulva/scrotum?

Howabout uterus/proximal vagina?

A

Ovaries/testes to para aortic

Distal vagina/vulva/scrotum to inguinal nodes

Obturator, external iliac and hypogastric nodes

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9
Q

Mnemonic for inguinal hernias?

A

MDs dont LIe

Medially to inferior epigastric is Direct inguinal hernia (through hasselbach triangle)

Laterally to inferior epigastric artery is Indirect inguinal hernia (Processus vaginalis)

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10
Q

What does 5 alpha RIDEuctase important for in development?

A

External genitalia. If it is deficient, you have male internal genitalia, and ambiguous or perhaps female external… UNTIL PUBERTY!

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11
Q

What if sertoli cells aren’t making anti mullein factor?

A

You have female and male internal genitalia

Male external genitalia

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12
Q

Work on homologous gender structures on page 562

A

ok

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13
Q

What teste cells are affected by temp?

A

Sertoli.

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14
Q

What spermatogonial cell line cells can’t do meiosis 1?

A

you get a lot of primary spermatocytes. (makes sense b/c completion of M1 makes secondary spermatocyte, then completion M2 makes spermatid)

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15
Q

Cant do meiosis 2?

A

lots of secondary spermatocytes. makes sense

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16
Q

FSH action in male?

A

Sertoli supports for sperm

Also makes inhibin and androgen binding protein

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17
Q

LH action in male?

A

Testosterone production in Leydig

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18
Q

What is aromatase?

A

It converts testosterone and androgen to estrogens (especially big in obese, so fat can become adipose deficient)

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19
Q

Lipid affects of exogenous testosterone?

A

Higher LDL and lower HDL (opposite of what you want)

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20
Q

5 alpha reductase inhibitors? and use?

A

Finasteride is RIDEuctase inhibitor

used in BPH
male pattern baldness

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21
Q

What is an inhibitor of testosterone receptor? What is it used for?

A

Flutamide (girly b/c it is blocked)

Prostate carcionma

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22
Q

What is ketoconazole?

A

Inhibits desmolase (steroid synthesis) (no prenenolone is made from cholesterol)

PCOS to block hair growth and hirsutism

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23
Q

androgen insensitivity syndrome?

A

look like woman, but inside is male. Genetics is male. Testes often in labia majora (lumps there are often there in test)

High estrogen and LH b/c body not getting feedback

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24
Q

5 alpha reductase insufficiency?

A

Born with ambiguous or female genitalia, then as you hit puberty, testosterone goes up and you become male

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25
Q

Female pseudo hermaprhodite?

A

21 beta hydroxylase or 11 beta hydroxylase.

Look like male

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26
Q

Male pseudo hermaphrodite?

A

Androgen insensitivty syndrome

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27
Q

What is kallmann syndrome?

A

Low GnRH, so low FSH, LH, so low testosterone

Defect is X-linked KAL chain

Defective smell, amenorrhea? look into it!!!

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28
Q

What is epididymitis caused by? How diagnosed? How treat?

A

Tender

gonorrhea or chlamydia

Ceftriaxone IM and then doxy

If anal intercourse: enterobacter and do fluoroquine

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29
Q

How do you tell testicular torsion is from epididymitis?

A

support doesn’t relieve symptom
no cremaster reflex from the tickle

Treat with detorsion within six hours

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30
Q

Old man with tumor of testicle?

A

lymphoma metastasis

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31
Q

Buzzwords for tumors should be ok fi you got them

A

13:00 min of repro chapter 4

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32
Q

Schiller duval bodies

A

Yolk sac tumor

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33
Q

High alpha fetoprotein

A

Teratoma 50%

BUT REALLY Yolk sac tumor

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34
Q

High hCG

A

Choriocarcinoma (can be teratoma)

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35
Q

Fried Egg appearance

A

Seminoma (watery looking, makes sense seminoma)

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36
Q

Normal AFP but high hCG

A

Embryonal (bad prognosis)

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37
Q

Most common testicular tumor?

A

Seminoma (responds to radiation

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38
Q

Synciotrophoblasts

A

Choriocarcionma

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39
Q

Painful testicular tumor?

A

Embryonal

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40
Q

Most common tumor up to age 3!!! IMPORTANT TO KNOW

A

Yolk sac tumor!

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41
Q

Estrogen secreting tumor of testicle?

A

Sertoli tumor

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42
Q

Hydrocele vs spermatocele?

A

Tunica vaginalis lesions

Both are lesions in serous covering of testes that present as masses that CAN BE TRANSILLUMINATED.

Hydrocele: secondary to inclompete obliteration of processus vaginalis (common in neonates, don’t treat for some time)

Spermatocele is dilated epididymal duct

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43
Q

What is varicocele? Key description?

A

Dilated veins in pampiniform plexus. Cause of infertility “Bag of worms” MORE COMMON IN LEFT b/c testicular vein goes all the way to renal vein and 90 degree angle)

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44
Q

Reinke rods?

A

Leydig tumor

Also they are gold cuz you dig for gold

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45
Q

Sildenafil mechanism and use?

A

Inhibit cGMP phosphodiesterase so more cGMP and more relaxion in corpus callosum and hard

Raynaud
Primary pulmonary HTN

Symptom: blue green color vision (viagra is the blue pill and blue vision)

Life threatening with nitrates

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46
Q

What is Bowen Disease?

A

Gray crusty plaque on penile shaft and can progress to squamous cell carcinoma (rarely)

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47
Q

What is bowenoid papulosis?

A

multiple papular lesions of penis and affects younger people

DO NOT become invasive

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48
Q

Priapism is associated with what?

A

sickle cell and spinal cord

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49
Q

What is balanitis?

A

Inflammation of glans often from candida

DIABETICs (makes sense b/c candida)
and in uncircumcised

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50
Q

Acute prostatis younger than 35 age?

Older than 35? Tx?

A

Young: gonorrhea, chlamydia

Older than 35: klebsiella, serratia, enterobacter, proteus (UTI bugs)

Flouroquinolones, TMP SX for 4 weeks (UTI bugs)

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51
Q

BPH tx?

A

Nonselective alpha 1 blockers (azosins). Decrease smooth muscle tone in prostate. Dizziness, postural hypotension.

TAMSOLUSIN!!!! (SELECTIVE for prostate!) IMPORTANT (alpha 1AD)

5 alpha riductase (finasteride, dutasteride)

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52
Q

How do you remember estrogens?

A

1, 2, 3. Men, Women, Baby (order of importance ;) )

EstrONE: made in men and women in periphery by aromatase

EstraDIone: (2) so women and ovaries and strongest

EsTRIol: (3) in placenta so way up in preggers

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53
Q

Myometrial excitability affected by what hormones?

A

estrogen increases it

progesterone decreases it

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54
Q

What hormone increases body temp?

A

progesterone!

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55
Q

What is menorrhagia?

Metrorrhagia?

Menometrorrhagia?

Oligomenorrhea?

Polymenorrhea?

A

Memorrhagia: heavy periods

Metrorrhagia: frequent irregular (think like metro bus with lots of stops

Menometrorrhagia: heavy, frequent (combo)

More than 35 day

<21 days in cycle

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56
Q

How long does ti take BhCG to be detected?

A

2 weeks after conception (smart, that is when period would start anyway)

Serum is a week after conception (implantation time)

57
Q

Why do OCPs help with acne?

A

estrogen causes liver to make more steroid binding hormone, so less free and active testosterone

58
Q

Who is OCP contraindicated for?

Dangers of OCP

A

Smokers over 35. Patients with aura and migraine! (risk of stroke b/c vasospasm!)

HTN, triglycerides, GI and weight gain.

59
Q

Problems with medroxyprogesterone?

A

Might have affect lasting a year (want it to last 3 months) Not good if you want to be pregnant in 6 months.

May cause bone mineral density lost if long term, so use less than 2 years

Irregular bleeding and stuff

60
Q

Who is IUD contraindicated for?

A

STD high risk (when you place it, you can push chlamydia or gonnohrea up higher, thats shitty b/c ascending infection and PID risk)

61
Q

Why hirsuitism in menopause?

A

change in balance of estrogen/androgen

62
Q

Allodynia vs hyperalgesia?

A

allodynia is stimulus that shouldn’t cause pain causes pain

hyperalgesia is over sensitized to pain

63
Q

What is vaginismus?

A

cramping of vaginal muscles that happens with touch and it hurts! Makes intercourse difficult

64
Q

Genes from HPV for tumor?

A

E6 and E7 and p53 and RB respectively. p53 comes before RB

65
Q

What do you see with sarcoma botryoides?

A

Girls less than 4. It is rhabdomyosarcoma and grapes

Desmin positive stain, duh.

Spindle shaped cells

66
Q

DES exposure?

A

Clear cell adenocarcinoma of vagina

67
Q

Koilocytes?

A

HPV infected cells.

Raison like nuclei with cleared cytoplasm

68
Q

Tx for endometriosis?

A

OCPs to control estrogen

Continous GnRH (leuprolide) to prevent more menstruation

Surgery: bilateral salpingo-oophorectomy

69
Q

What is danazol?

A

mild androgenic medication that counteracts estrogen but androgenic side effects, so not used anymore

70
Q

What is adenomyosis? and signs/symptoms?

Dx? Rx?

A

Endometrial tissue in myometrium

Tender, boggy, enlarged uterus
Heavy periods
Focal pain on exam
Dyspareunia

Dx and Rx: histerectomy

71
Q

What causes endometrial hyperplasia?

A

Unopposed estrogen (no progesterone)

It keeps building and building.

Risk factors: Polycysti ovarian syndrome and granulosa cell tumor

Anovulatory cycles
ESPECIALY Worry if postmenopausal bleeding

72
Q

Risk factors for endometrial cancer?

A 
HHONDA
Hyperplasia
HTN
Obesity
Nulliparity
Diabetes
Anovulatory state
73
Q

What is leiomyoma (fibroid)? histo? Symptoms?

A

Benign smooth muscle tumor common in women. COMMON

NO RISK OF CANCER even though they come from single cell

Decreases with menopause b/c estrogen sensitive. So OCP is tx (b/c controlled estrogen), Leuprolide, ablate, myomectomy, Hysterectomy

histo is whorled pattern

ASYMPTOMATIC, OR vaginal bleeding, bulk systems, miscarriage if poor blood supply, can cause PAIN if necrosis (but rare outside of pregnancy)

74
Q

Who gets leiomysoarcoma?

A

Middle aged. They are aggressive and reoccur

Hysterectomy

75
Q

Most common gyn cancers?

A

endometrial (#4 overall)

Ovarian (#5) poor prognosis b/c late catching it

Cervical farther down list thx to screening

76
Q

Most common tumor in women? RFF

A

leiomyoma

77
Q

Most common gyn malignancy in US? in world? RFF

A

Endometrial

Cervical

78
Q

Choclate cyst is what? RFF

A

endometriosis of ovary

79
Q

What can cause anovulation in a young woman?

A 
PREGNANCY
Thyriod disease
hyperprolactinemia
cushing disease
adrenal insufficiency
Premature ovarian failure
Stress
Starvation (evolution makes sense)
Anorexia
Obesiy
80
Q

What are the diagnostic criteria for polycistic ovarian syndrome?

A

2 of the 3

Oligo- or anovulation
Hyperandrogenism
Polycistic ovaries on US

81
Q

PCOS is a 4 star topic. so list the three ways it can develop?

A

High LH:FSH from pituitary/hypothal issue causes theca cell to make a ton of androgen (hirsuitism) which is made to estrogen by granulosa which feedback inhibition stops FSH from being released (and follicles don’t develop) and you get an ovulation.

Or you could: peripheral adipose makes more estrogen

Or you could have insulin resistance causing more insulin to be released which stimulated theca cells and decreases liver synthesis of androgen hormone binding globulin (hirsuitism)

82
Q

What are the treatments for polycystic ovarian syndrome?

A

Weight loss
Metformin
PROGESTERONE (to protect endometrium from unopposed estrogen)
Clomiphene (blocks the estrogen negative feedback)
Leuprolide pulses to get back ovulation
Spironolactone (antiandrogen)
Ovarian drilling (a weird thing done surgically and people aren’t sure why it works)

83
Q

What is clomiphene?

A

Partial agonist at estrogen receptor in hypothalamus (makes a competitive inhibitor to decrease negative feedback AT HYPOTHALAMUS) so you can increase FSH!

84
Q

What is CA 125?

A

A way to monitor progression of ovarian tumors (but terrible for screening b/c non-specific)

85
Q

20% bilateral, unilocular cyst lined by fallopian tube epithelium (ciliated) is what kind of ovarian tumor?

A

Serous cystadenoma

86
Q

What type ovarian tumor is often bilateral with fallopian tube epithelium or potentially anapestic? It can have psammoma bodies.

A

Mucinous cystadenoma (50% of ovarian tumors)

Psammoma bodies are concentric rings of calcifications

87
Q

What type of ovarian tumor is unilateral, potentially being multilocular and large and lined by columnar cells that look similar to intestine on pathology?

A

Mucinous cystadenoma (there is a pic on 582 of first aid, check it out on the PDF)

88
Q

What ovarian tumor can cause pseudomyxoma peritonea? What else can cause this?

A

Mucinous cystadenocarcionma. Looks like adenocarcionma of the intestine.

Pseudomyxoma peritonei is intraperitoneal mucinous material (i think joe saw a guy with this in clinic) which can happen with appendices cancers as well)

89
Q

What tumor looks like transitional cell of the bladder? It has COFFEE BEAN nuclei (first aid mentions this as does DIT)

A

Brenner tumor (it is encapsulated so it is benign)

The nuclei look like little blue/purple coffee beans)

BrennER is BladdER

90
Q

What is difference between mature and immature teratomas? One of them can they secrete causing strum ovarii?

A

95% are mature and benign “Dermoid cysts”

5% are immature with neural elements and in the 1st or 2nd decade of life.

they can have functionally thyroid tissue making a person hyperthyroid and if so, it is more likely to be a mature (benign) teratoma

91
Q

What type of ovarian tumor has sheets of uniform cells?

A

dysgeminoma: hCG and LDH are tumor markers

92
Q

What is dysgerminoma associated with? What are the markers?

A

Turner syndrome. LDH and hCG

93
Q

What are sheller duval bodies? if you see it, what is a tumor marker for it?

A

Endodermal sinus (Yolk sac tumors) have them, they are resembling glomeruli

AFP is the marker

94
Q

What ovarian tumor differentiates towards trophoblastic structures with only maternal DNA? Is it dangerous?

A

Ovarian choriocarcionma develops syncytiotrophoblasts and cytotrophoblasts so makes hCG!

Yes metastasize, b/c trophoblastic tissue is designed to be invasive (to be able to do blood exchange in placenta, so they can invade tissues)

95
Q

What is Meigs syndrome?

A

Ovarian Fibroma, ascites, pleural effusion (hydrothorax)

pulling sensation in the groin

96
Q

What are Call-Exner bodies found in? What do they look like? And what findings do you have in serum tests?

A

Malignant Granulosa cell tumor and they make estrogen/progesterone which makes sense.

Call exner bodies resemble primordial follicles (disarrayed granulosa cells in eosinophilic fluid)

can cause endometrial hyperplasia and breast tenderness
If in kids, can cause precocious puberty,

97
Q

What is a mucin-secreting signet cell adenocarcionma?

A

Kruckenberg tumor (nucleus is pushed to one side b/c all the mucoin in the cell)

They are from GI (which makes sense b/c GI makes a lot of mucin)

98
Q

What is the fetal component of the placenta? What does what?

A

Cytotrophoblast make Cells and is inner layer of chorionic villi

Syncytiotrophoblast is outer layer and Secretes hCG (stimulates corpus luteum as it is similar to to LH.)

Syncytiotrophoblast Syncs with mother

99
Q

What is the maternal component of placenta?

A

Decidua basalis (from endometrium)

Maternal blood is in the lacunae and is around syncytiotrophoblast

100
Q

G#P#A#?

A

Gravidity is number preggers
P is number delivery
A is huber of abortions/miscarriage

101
Q

Why is glucose high in pregnancy?

A

human placental lactogen is released which is important to allow more nutrients to baby

102
Q

Quad screen for DownSyndrome?

A

low AFP high betaHCG low estriol

Easy to remember b/c it is every other if you do it alphabetically and you start down b/c down syndrome

103
Q

What are the markers for trisomy 18?

A

low everything, AFP bhCG and estriol (think of it as more severe, so everything is low)

104
Q

What cause increase in AFP during preggers?

A

NEURAL TUBE DEFECTS (biggie)
Abdominal wall defects
multiple gestation

105
Q

What is risk of of amniocentesis?

A

0.5% risk of fetal loss and risk of of 1-2% of fetal/maternal hemorrhage

106
Q

What do you see if monozygotic twins split before 4 days?
4-8 days?
8-12 days?
13+ days

A

0-4 before chorion is made, so dichorionic and diamniotic

4 days is chorion formed, so 4-8 days is monochorionic and diamniotic (shared placenta)

8 days the amnion is formed so they are monochorionic and mono amniotic (floating with nothing separating the two

13 days is when embryonic disc is formed so the twins are conjoined if splitting happens here

107
Q

What happens with twin-twin transfusion syndrome?

A

Anastomis in chorion causes shunting of blood.

Donor is growth restricted and anemic

Recipient is polycythemic, overloaded and has heart failure and comes out worse than donor

108
Q

What do you suspect if uterine rupture in pregnancy?

A

Complete mole. (complete moles are completely worse)

109
Q

What is it called when placenta attaches over cervical os? How does it present?

A

Placenta previa. Partially covers or completely covers it.

PRESENSTS as painless vaginal bleeding

Dx is ultrasound. DO NOT put your finger in and rupture anything

Risk factor: multiparty, makes sense, prior C section b/c scarring

110
Q

What is vasa previa?

A

Fetal blood vessels over cervix

111
Q

3 types of placental invasion into uterus. What are they? How do you tx? How are they caused?

A

Placenta Accreta ATTACHES to myometrium without penetrating it

Placenta INcreta goes INTO myometrium

Placenta PERCRETA PERForates through myometerium

Life threatening b/c exposed vessels will bleed, need to do hysterectomy.

The mother made a defective dicidual layer so the placenta infiltrates

Prior c section is a risk b/c scar makes for poor basalis

112
Q

Third trimester has painful vaginal bleeding. What is it?

A

Placental abruption. Can lead to DIC

Predisposed with trauma (makes sense)
Cocaine
Vasoconstriction can cause it: preeclempsia, cocaine use

Dx: Kleihauer-Betke checks for fetal blood in mom

113
Q

What can cause oligohydramnios?

A

Placental insufficiency
Bilateral renal agenesis
Posterior urethral valves

114
Q

What is preeclempsia defined as?

A

> 140/90 and proteinuria with 300 mg/24 hours

if seizures, it is eclempsia

115
Q

What is HELLP syndrome?

A

Hemolysis
Elevated Liver enzymes
Low Platelet

Anemia, RUQ pain/jaundice, bruising/bleeding

116
Q

Tx for eclempsia seizure?

A

Delivery!
IV magnesium and its side effects are:
low reflex, pulmonary edema, altered mental status, cardiac conduction defects

117
Q

Similarities and differences between gestational diabetes and Type 1/II diabetes in pregnancy?

A

Similar: Macrosomia and stillbirth (later high sugars, after human placental lactogen kicked in)

Different: Type I/II cause miscarriage or abnormalities (b/c differences diabetes is bad for vessels and high blood sugar doesn’t come up until later in pregnancy normally, but if high in first 20 weeks, it is bad)

Congenital heart defects
Caudal regression syndrome
Nueral tube defects

That doesn’t happen with gestational diabetes b/c that doesn’t happen until after vessel development of baby

118
Q

Majority of miscarriage is what?

A

Trisomy 16

119
Q

PCOS can cause infertility. How do you fix that?

A

Clomiphene or metformin

120
Q

What are the different drug categories for pregnancy (if you want an exhaustive list of where drugs fall, page 237 can help you out)

A

Category A (safety established in human studies)
B: presumed safety from animal studies
C no studies have shown things, uncertain safety
D human risk, but benefit may ouweight risk
X: NEVER OK TO USE

121
Q

Drugs for HTN in preggers?

A

Hydralazine (arterial vasodilate)
Methyldopa
Labetalol

122
Q

Diabetes tx in preggers?

A

Insulin (important to make sure to take care of it pregestationally)

123
Q

Tx for epilepsy in preggers?

A

Anything that helps control seizures b/c seizures are bigger risk EXCEPT avoid valproic acid

Supplement with folic acid b/c NTD risk

124
Q

Tx for hyperthyroid in preggers?

A

PTU in first trimester then methimazole in second and third

125
Q

Anticoag tx during preggers?

A

Heparin or enoxaparin

NEVER WARFARIN

126
Q

What are tocolytics? 4 of them

A

Indomethacin decreases prostaglandins. Risk of closing PDA but if short usage, not bad

Nifedipine: calcium cahnnel blocker causes myometrial relaxation

Terbutaline: beta2 agonist to relax myometrium

Magnesium sulfate seizure prophylaxis also

127
Q

Drugs for promoting labor?

A

Prostaglandins. DinoPROSTone is PGE2 and misoPROSTol is PGE1 (cervical relaxation and uterine contractions). Risk of tachysystole that can cut off blood flow or uterine rupture if scarred uterus

Oxytocin

Both can be used to fix atony to stop bleeding after delivery

128
Q

Chemical abortificants that are approved? Which is specific for ectopic?

A

Mifepristone: progesterone antagonist

Misoprostol: PGE1 analog to cause uterine contraction to kick out the pregnancy (expulsion)

Methotrexate for ectopics. Folic acid antagonists so cells don’t grow

129
Q

Gene for fragile x syndrome? What heart issue comes with it?

A

FRM1 (Fragile mental retardation is mnemonic) is affected by methylation and expression of it.

MVP

130
Q

What are risks with down syndrome? Quad screen?

A 
Duodenal atresia
Endocoardial cushion
Risk of ALL/AML (ALL)
ALLzheimer disease
Polycythemia (65% newborns with down's have it)

ALL fall DOWN (down’s syndrome from that ring around the rosie song)

Down alpha fetoprotein
UP betaHCG
down estriol
Up inhibit A

Ultrasound is more nuchal translucency (also turner syndrome)

131
Q

What does Edwards syndrome look like?

A

Trisomy 18. Rocker bottom feet, micrognathia (small jaw), low set Ears (Edwards), clenched han and congenital heart disease. Death within a year. (so it is bad, so in had screen EVERYTHING is low)

Normal inhibin A

132
Q

What do you see with Patau?

A

Patua is trisomy 13. P disease

Clef liP/Palate, holoProsencephaly, Polydactyly, microcephaly, mircroPhthalmia

Screening: everything is low but INCREASED nuchal translucency (like down)

No quad screen, but you do see decreased betahCG in first trimester. PAPP-A is decreased

133
Q

Klinefelter presentation?

A

Tall, less testosterone (so hips are big and female hair distribution). Infertal, dysgenisis of seminiferous tubules, so less inhibit so more FSH

Inactive X is BARR Body and present

134
Q

Turner syndrome presentation?? What heart conditions do you have?

A 
Short
shield chest
webbing of neck
gonadal dysfunction (streak ovaries)
most common cause of primary amenorrhea
Preductal coartation and bicuspid aortic valve

Always rule out Turner if amenorrhea (b/c some people don’t have other symptoms

135
Q

Double Y?

A

normal phenotype, very tall, severe acne, and autism or antisocial behavior

136
Q

Cri du chat? Which chromosome?

A

5p- (youtube video of kid with retardation who has high pitched voice talking about 5p-

Microdeletion of short arm of chromosome 5

Microsephaly. moderate to severe retardation, MEWING, VSD

137
Q

Williams sydnrome? Which chromosome?

A

Will Ferrell in Elf (lucky chromosome number 7 micro deletion of long arm)

Elfin facies, very friendly to strangers, Hypercalcemia from increased sensitivity to vitamin D (makes living in north pole with low Vit D more bearable)

138
Q

Problems with 22q11 deletions?

A

CATCH-22

Cleft palate
Abnormal facies
Thymic aplasia (T cell def)
Cardiac defects
Hypocalcemia (parathyroid issues)
22q11
139
Q

Difference of DiGeorge and velocardiaofacial syndrome?

A

Digeorge is triad of thymic, parathyroid and cardiac issues

Velocardiofacial is palate, facial, and cardiac issues

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