Unit 3: Birth Defects (Structural Abnormalities)

Question 1

Birth defects-a ______ or _______ abnormality in ________ present at birth.

Answer 1

structural, functional, development

Question 2

Malformation- _______, anomalous, _______ or faulty formation or structure.

Answer 2

irregular, abnormal

Question 3

Birth Defects and Malformation Causes:

• ____________ abnormalities
• ____________ disorders
• Birth _______
• _______ birth defects

Answer 3

Chromosomal
Congenital
defects
Specific

Question 4

Chromosomes- __________ factors received from ancestors passed ______ to offspring

Answer 4

hereditary, genetically

Question 5

Chromosomes-
Form strand of ____ and associated _____ in the nucleus of __________ cell.
-Composed of thousands of _______ located at ________________ in the chromosome.
-Function in the __________ of hereditary information.

Answer 5

DNA, proteins, eukaryotic
genes, specific positions
transmission

Question 6

Chromosomes:

-Each individual has _____ chromosomes (__ pairs)

Answer 6

46, 23

Question 7

Chromosomes:

- __ chromosomes (22 pairs) are ________ chromosomes- determine body _____ and _______. (e.g. eye or hair color)

Answer 7

44, autosomal, function, appearance

Question 8

Chromosomes:

• __ chromosomes (1 pair) are ____ chromosomes- determine the ___ of the individual.
• Females-have __ sex chromosomes
• Males- have __ sex chromosomes

Answer 8

2, sex, sex
XX
XY

Question 9

Chromosomes:
-All ______ (body) cells have ___ chromosomes; reproduced by ________; divide into identical _________ cells each with ___ chromosomes.

Answer 9

somatic, 46, mitosis, daughter, 46

Question 10

Chromosomes:

• Germ (___) cells have __ chromosomes; reproduce by ______, result in gametes:
• Ovum (_____)- __ chromosomes
• Sperm (_____)- __ chromosomes
• At fertilization (__________) > 23+23=46
• **One half of the genetic material is carried by a ____ and one half by a ____.

Answer 10

sex, 46, meiosis
female, 23
male, 23
sperm+ovum
female, male

Question 11

Chromosomes:

• Genes on chromosomes pair up forming _______, (e.g. BB-brown eyes, bb-blue eyes)
• Genes in an allele may be _______ (B) or ________ (b)

Answer 11

alleles

dominant, recessive

Question 12

Chromosomes:

• Alleles (genes) in a pair can be
• ____________ (BB, bb), or
• ____________ (Bb)
• The usual female _____ is 46, XX indicating 44 autosomes (body) and 2-X (sex) chromosomes (XX).

Answer 12

homozygous
heterozygous
karoytype

Question 13

Chromosomal Abnormalities:

• too _________ chromosomes (__________)
• _________ syndrome (45X)

Answer 13

few sex, monosomy

Turner’s

Question 14

Chromosomal Abnormalities:

• too ______ chromosomes (______)
• ___________ syndrome (47XXY)

Answer 14

many sex, trisomy

Klinefelter’s

Question 15

Chromosomal Abnormalities:

• too __________ chromosomes.
• ______ syndrome
• ______ syndrome
• ______ syndrome

Answer 15

many autosomal
Down’s
Edward’s
Patau

Question 16

Chromosomal Abnormalities:

• too ____ sex chromosomes (_________)
• Turner’s Syndrome (___)-lacking __ chromosome ( 44 autosomes+single X chromosomes) > clinically a ______ (45XO)

Answer 16

few, monosomy

45X, X, female

Question 17

Chromosomal Abnormalities:

• Turner’s Syndrome:
• _____, broad chest _________ breasts, cardiac _______, ovaries, uterus
• _____________, infertile (no menstruation)
• mental retardation is _______ (with hormone replacement-normal intelligence and life)

Answer 17

short, underdeveloped, malformations

Question 18

Chromosomal Abnormalities:

• too _____ sex chromosomes (_______)
• Klinefelter’s Syndrome (47XXY) -2X+1Y chromosome > clinically a _______.
• usually _______
• underdeveloped _______, ________, no facial hair, enlarged breasts
• _____ hands and feet, ____ arms and legs.

Answer 18

many, trisomy
male
sterile
prostate, no facial hair

Question 19

Chromosomal Abnormalities:

• too _____ autosomal chromosomes (______)
• Down’s Syndrome:
• _______ 21= three copies of chromosomes 21
• 1 in 1,500 births (women under 30); 1 in 25 (women 45 and older)
• Mental __________, short and curved 5th finger
• Characteristic _____________-flat nasal bridge, low-set ears, slanted eyes,
• heart defects

Answer 19

many, trisomy
trisomy
retardation
facial appearance

Question 20

Chromosomal Abnormalities:

• too ____ autosomal chromosomes (________)
• Edward’s Syndrome
• _________ 18-three copies of chromosomes 18.
• usually _____ within 3 months due to multiple _________ defects.
• _____ lip and palate
• Severe _____ and ____ retardation

Answer 20

many, trisomy
trisomy
fatal, congenital
cleft
mental, motor

Question 21

Chromosomal Abnormalities:

• too _____ autosomal chromosomes (_______)
• Patau Syndrome
• _________ 13-three copies of chromosome 13
• _________ abnormalities: __________ polydactyly, syndactyly, heart defects
• generally ______ in infancy

Answer 21

many, trisomy
trisomy
physical, microcephaly
death

Question 22

Congenital Disorders:

Congenital- _____ defects

Answer 22

birth

Question 23

Congenital Disorders:

Congenital Deformation- resulting form maternal _________ factors.

Answer 23

mechanical

Question 24

Congenital Disorders:
Congenital Malformation-resulting from abnormal ___________ development, usually ______.
-Teratogen

Answer 24

embryologic, genetic

Question 25

Congenital Disorders: - Congenital Malformation - Teratogen-anything that adversely affects normal _____ development in the ______ or fetus, can damage fetal or ovarian ____ including congenital fetal malformation.

Answer 25

cellular, embryo, DNA

Question 26

Congenital Disorders: Etiology - Chemicals - __________ (thalidomide, synthetic hormones, antibiotics, tranquilizers), _______, ______

Answer 26

medications, narcotics, alcohol

Question 27

Congenital Disorders: Etiology - Chemicals - Fetal Alcohol/fetal narcotic syndrome-group of symptoms and birth defects in infant _____ to mother who consumed _____________ during pregnancy.

Answer 27

born, alcohol/narcotics

Question 28

Congenital Disorders: Etiology - Infections - group of infections _______by women ____ pregnancy and _______ to the child in the womb.

Answer 28

acquired, during, transmitted

Question 29

Congenital Disorders: Etiology - Infections - TORCH teratogens include: - Toxoplasmosis - __________ (German Measles) - Cytomegalovirus (____) - _____________ - exposure to any during weeks ______ of pregnancy may result in the baby's _______ or serious complications.

Answer 29

Rubella CMV Herpes Virues 3-9,

Question 30

Congenital Rubella Syndrome: _____ virus crosses the placenta to _____; causes __________, learning disorders, deafness, heart defects.

Answer 30

rubella, fetus, microcephaly

Question 31

Congenital Disorder: Etiology - Radiation- ______ - Nutritional Deficiencies- _______, iodine

Answer 31

X-rays | vitamins

Question 32

Congenital Disorder: Etiology - Condition of the mother - ___(risk of Down's Syndrome) - Fluid retention and poor diet - _________ imbalance - Physical ______ - Maternal _________ - ________ - Metabolic disorders, drugs and medications (e. g. cleft palate, clubfoot, spina bifida, seal limb

Answer 32

``` Fluid Hormonal Injury Radiation Infections ```

Question 33

Birth Trauma: - ________ or psychological injury sustained by an mother ____, ____ or after -____ - Examples - Infections (gonorrhea, _____ in the birth canal) - Trauma - Lack of _____ - Umbilical Cord Strangulation

Answer 33

physical, before, during, birth

Question 34

Birth Defects: Body Size 1. _______ 2. ________ - Achondraplasia

Answer 34

Monsters | Dwarfism

Question 35

Birth Defects: Body Size | -Monsters (grossly deformed ______)- e.g. joined twins, parasitized fetus.

Answer 35

fetus

Question 36

Birth Defects: Body Size - Dwarfism - Achondroplasia (smaller _________) - abnormal development of ________ cartilage - rare genetic disorder= __________________ - short statue, disproportionally short _____ and ____. - large head and characteristic facial features - ___ of these dwarfs have two parents of average height.

Answer 36

``` extremities epiphyseal heredity dwarfism arms, legs 80% ```