Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
59 Cards in this Set
- Front
- Back
|
define complete mole
|
results from fertilization of an ovum that lost all its chromosomal material
All chromosomal material is derived from sperm 90% of the time, the molar karyotype is 46,XX 10% of the time, the molar karyotype include a Y chromosome The embryo does not develop |
|
|
define partial mole
|
Partial mole: results from fertilization of an ovum that has not lost its chromosomal material by two sperms, one 23, X and one 23, Y
This results in a triploid cell 69,XXY (23, X [maternal] + 23X [one sperm] + 23Y [the other sperm]) The embryo may develop for a few weeks |
|
|
at what ages are you more likely to get a hydatidiform mole?
|
Increased risk in women ages < 15 and > 40
|
|
|
a woman shows up for an evaluation of her current pregnancy. You walk in the room and the lady has uterine enlargement that is vastly beyond expected. She says that she had some vaginal bleeding and passed some stuff that looked like grapes..what does she have? what would be a marker of this?
|
Hydatidiform mole
elevated B-HCG |
|
|
what is an invasive mole?
|
Refers to a hydatidiform mole (nearly always of the complete type) – in which villi penetrate deeply into the myometrium and/or its blood vessels
Occurs in 16% of all complete moles Is an exaggerated expression of the capacity of normal trophoblast for invasion – a necessary property for implantation has all the biologic features of a malignant neoplasm – except that it is self-limited |
|
|
What is a choriocarcinoma?
|
Malignant germ cell tumor derived from the trophoblast
The cells are derived from any form of previously normal or abnormal pregnancy Most cases arise in the uterus (can occur at sites of ectopic pregnancies) |
|
|
50% of hydatididform moles will lead to what?
|
Choriocarcinoma
|
|
|
a recently pregnant pt comes in with spotting of bloody, brown, foul smelling fluid. You get a blood titer and find hCG elevated even beyond the level of hydatidiform mole... you know what is going on and decide to order a chest xray..why?
|
this is a Choriocarcinoma
it is most likely to have spread to the lung (could also be vagina, brain, liver, kidney) |
|
|
need a laugh?
|
|
|
|
Cystic Fibrosis
Inheritance pattern? example of? |
AR
Pleiotropic Allelic Heterogenecity |
|
|
Sickle Cell Anemia
Inheritance pattern? example of? |
AR
Point Mutation |
|
|
Tay-Sachs
Inheritance pattern? example of? |
AR
-- |
|
|
Phenylketonuria
Inheritance pattern? example of? |
AR
Pleiotropic |
|
|
Hurler Syndrome
Inheritance pattern? example of? |
AR
Pleiotropic |
|
|
Xeroderma Pigmentosum
Inheritance pattern? example of? |
AR
Locus Heterogeneity |
|
|
alpha-thalisemias
Inheritance pattern? example of? |
AD
Locus Heterogeneity |
|
|
B-thalisemias
Inheritance pattern? example of? |
AD
Locus Heterogenity |
|
|
Marfan Syndrome
Inheritance pattern? example of? |
AD
Pleitropic |
|
|
Familial hypercholestoremia
Inheritance pattern? example of? |
AD
-- |
|
|
Myotonic Muscular Dystrophy
Inheritance pattern? example of? |
AD
Anticipation |
|
|
Huntington Disease
Inheritance pattern? example of? |
AD
Anticipation |
|
|
Achondroplasia
Inheritance pattern? example of? |
AD
Pleiotropic |
|
|
Hutchinson-Gilford Progeria
Inheritance pattern? example of? |
AD
-- |
|
|
Retinoblastoma
Inheritance pattern? example of? |
AD
Tumor Suppressor |
|
|
Neurofibromatosis Type I/II
Inheritance pattern? example of? |
AD
Pleiotropic Tumor Suppressor |
|
|
What is Pleiotropy
|
Single gene influences multiple traits
|
|
|
Neuroblastoma
Inheritance pattern? example of? |
Gene Amplification
Homogeneous Staining Region |
|
|
Red Green Color Blindness
Inheritance pattern? example of? |
XR
-- |
|
|
Hemophilia A
Inheritance pattern? example of? |
XR
Allelic heterogeneity |
|
|
Hemophilia B
Inheritance pattern? example of? |
XR
Allelic heterogeneity |
|
|
Duchenne Muscular Dystrophy
Inheritance pattern? example of? |
XR
-- |
|
|
G6PD
Inheritance pattern? example of? |
XR
-- |
|
|
Lesch-Nyhan syndrome
Inheritance pattern? example of? |
XR
-- |
|
|
Fragile X Syndrome
Inheritance pattern? example of? |
X-linked dominant
Anticipation |
|
|
SCIDS
Inheritance pattern? example of? |
AR/XR
Locus Heterogeneity |
|
|
Osteogenesis Imperfecta
Inheritance pattern? example of? |
AR/AD
|
|
|
Ehlers-Danlos Syndromes
Inheritance pattern? example of? |
AR/AD/XR
|
|
|
Charcot-Marie-Tooth
Inheritance pattern? example of? |
AR/AD/XR/XD
Locus Heterogeneity (Sex influenced) |
|
|
Familial Parkinson Disease
Inheritance pattern? example of? |
AR/AD
Locus Heterogeneity |
|
|
Idiopathic Parkinson Disease
Inheritance pattern? example of? |
Multifactorial
|
|
|
Alzhemers
Inheritance pattern? example of? |
Multifactorial
|
|
|
Diabetes Mellitus
Inheritance pattern? example of? |
Multifactorial
Autoimmune |
|
|
Systemic Lupus
Inheritance pattern? example of? |
Multifactorial
Autoimmune |
|
|
Leber Optic Neuropathy
Inheritance pattern? example of? |
Mitochondrial
Locus Heterogeneity, Sex Influenced |
|
|
Kearn-Sayre Syndrome
Inheritance pattern? example of? |
Mitochondrial
Duplication Deletion |
|
|
Down Syndrome
Inheritance pattern? example of? |
Aneuploidy
|
|
|
Edwards Syndrome
Inheritance pattern? example of? |
Aneuploidy
|
|
|
Patau Syndrome
Inheritance pattern? example of? |
Aneuploidy
|
|
|
Turner Syndrom
Inheritance pattern? example of? |
Aneuploidy
|
|
|
Klienfelter Syndrom
Inheritance pattern? example of? |
Aneuploidy
|
|
|
Cri du Chat
Inheritance pattern? example of? |
Aberration
Deletion 5p |
|
|
Chronic Myelogenous Leukemia
Inheritance pattern? example of? |
Aberration
Translocation |
|
|
Burkitt Lymphoma
Inheritance pattern? example of? |
Aberration
Translocation |
|
|
Prader-Willi Syndrome
Inheritance pattern? example of? |
Microdeletion
Epigenic Imprinting |
|
|
Angelman Syndrome
Inheritance pattern? example of? |
Microdeletion
Epigenic Imprinting |
|
|
DiGeorge Syndrome
Inheritance pattern? example of? |
Microdeletion
22q11 |
|
|
Williams Syndrome
Inheritance pattern? example of? |
Microdeletion
7q11 |
|
|
True Hermaphrodite
Inheritance pattern? example of? |
Aberrations or Chimeras
Translocation or Embryonic Fusion |
|
|
CAH
Inheritance pattern? example of? |
AR
|
