1What are the 4 main stages in prenatal development?
1. Preimplantation embryonic stage
2. Germ Layer formation
3. Early organogenesis
4. Definite organogenesis
2What does the inner cell mass of a blastocyst become?
Endoderm, ectoderm and mesoderm
3Organogenesis definition:
the process of formation of organs from three germ layers
4What are the causes of congenital defects?
Idiopathic
Genetic
Chromosomal abnormalities
Infections
Chemicals
5What are examples of exogenous teratogens
Physical (ex: x-rays, radiation
Chemical (ex: drugs, alcohol
Microbial (ex: viruses, bacteria
6What are physical attributes of a child with fetal alcohol syndrome?
Small head
Epicanthal folds
Flat midface
Smooth philtrum
Underdeveloped jaw
Low nasal bridge
Small eye openings
Short nose
Thin upper lip
7What is TORCH syndrome?
a group of infectious diseases that can affect a developing fetus or newborn
8What are some examples of torch syndrome?
Toxoplasma
Others ~ less common: epstein-barr virus, listeria and leptospira
Rubella
Cytomegalovirus
Herpesvirus
9What is congenital rubella syndrome?
an illness in infants that results from maternal infection with rubella virus during pregnancy. BLINDNESS.
10What happens in Klinefelter syndrome?
XXY (extra x)
11What is XYY syndrome?
An extra y chromsome
12What are examples of turner syndrome chromosomes?
X
X del (Xp)
X i(Xq)
X mar
13What is trisomy X syndrome?
XXX
14What gene is seen in males and not females?
SRY gene
15what is aneuploidy?
The occurrence of one or more extra or missing chromosomes in a cell or organism.
16Trisomy 21 is related to what syndrome?
Down syndrome
17What are characterisitcs of down's syndrome?
Mental retardation
Unique facial features
Eye abnormalities
Gaping mouth and large tongue
HEART DISEASES
Intestinal defects
Hand abanormalities
Abnormalities of toes
18what is turner's syndrome?
Missing an X chromosome on 23rd pair (MONOSOMY)
19What are characterisitcs of Kleinfelter's syndrome?
Tall, long arms and legs
Lack of beard, body hair , pubic hair
Gynecomastia
Female-like hips
Testicular atrophy, infertility
20Who decides the sex of the child?
Male: give an X or Y
21what are alleles?
Different forms of the same gene ex: Aa, AA, aa
Can have MANY VARIATIONS
22what is familia hypercholesterolemia?
an inherited genetic condition that is present from birth (congenital) and causes high levels of low density lipoprotein (LDL), sometimes known as "bad cholesterol."
23Examples of autosomal recessive disorders?
Cystic fibrosis
Anemias
Lipidoses ~ tay-sachs disease (ganglinosidase), neimann-pick (acid sphingomyelinase)
Mucopolysacccharidoses ~ hurler/hunter
Amino acid disorders ~PKU, albinism
24what is cystic fibrosis?
CFTR gene mutations
affects protein channels that affect the chlorides movement
thick mucus bc water & Na+ cant come out
25what is PKU?
a rare, inherited genetic disorder that prevents the body from breaking down the amino acid phenylalanine.
Impaired phenylalanine hydroxylase
Outcome: phenylpyruvic acid
26What are examples of x-linked recessive disorders?
-hemophilia a and b
-muscular dystrophy ( duchenne's and becker's)
-congenital immunodificiencies (agammaglobulinemia, wiskott-aldrich syndrome, x-linked immunodeficiency, lymphoproliferative disorders)
27what is fragile x -syndrome?
CGG tripple nucleotide repeat
tail on x chromosome
mental retardation males
28what is type 2 diabetes?
insulin resistance = hyperglycemia
glucose cant get inside cells
29Lipid breakdown turns into
ketones
30what is anencephaly?
no brain
31what is craniorachischis?
no brain no spine
32what is neonatal respiratory distress syndrome (RDS)
surfactant deficiency
33what is Atelectasis
the collapse of part or all of a lung, is caused by a blockage of the air passages or by pressure on the lung