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Physiological Pathology > Unit 3: Birth Defects (Structural Abnormalities) > Flashcards

Unit 3: Birth Defects (Structural Abnormalities) Flashcards

1
Q

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

A

structural, functional, development

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2
Q

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

A

irregular, abnormal

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3
Q

Birth Defects and Malformation Causes:

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

Chromosomal
Congenital
defects
Specific

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4
Q

Chromosomes- __________ factors received from ancestors passed ______ to offspring

A

hereditary, genetically

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5
Q

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.

A

DNA, proteins, eukaryotic
genes, specific positions
transmission

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6
Q

Chromosomes:

-Each individual has _____ chromosomes (__ pairs)

A

46, 23

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7
Q

Chromosomes:

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

A

44, autosomal, function, appearance

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8
Q

Chromosomes:

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

2, sex, sex
XX
XY

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9
Q

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

A

somatic, 46, mitosis, daughter, 46

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10
Q

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 ____.
A 
sex, 46, meiosis
female, 23
male, 23
sperm+ovum
female, male
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11
Q

Chromosomes:

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

alleles

dominant, recessive

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12
Q

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).
A

homozygous
heterozygous
karoytype

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13
Q

Chromosomal Abnormalities:

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

few sex, monosomy

Turner’s

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14
Q

Chromosomal Abnormalities:

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

many sex, trisomy

Klinefelter’s

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15
Q

Chromosomal Abnormalities:

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

many autosomal
Down’s
Edward’s
Patau

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16
Q

Chromosomal Abnormalities:

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

few, monosomy

45X, X, female

17
Q

Chromosomal Abnormalities:

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

short, underdeveloped, malformations

18
Q

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.
A

many, trisomy
male
sterile
prostate, no facial hair

19
Q

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
A

many, trisomy
trisomy
retardation
facial appearance

20
Q

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
A 
many, trisomy
trisomy
fatal, congenital
cleft
mental, motor
21
Q

Chromosomal Abnormalities:

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

many, trisomy
trisomy
physical, microcephaly
death

22
Q

Congenital Disorders:

Congenital- _____ defects

A

birth

23
Q

Congenital Disorders:

Congenital Deformation- resulting form maternal _________ factors.

A

mechanical

24
Q

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

A

embryologic, genetic

25
Q

Congenital Disorders:

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

cellular, embryo, DNA

26
Q

Congenital Disorders: Etiology

  • Chemicals
  • __________ (thalidomide, synthetic hormones, antibiotics, tranquilizers), _______, ______
A

medications, narcotics, alcohol

27
Q

Congenital Disorders: Etiology

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

born, alcohol/narcotics

28
Q

Congenital Disorders: Etiology

  • Infections
  • group of infections _______by women ____ pregnancy and _______ to the child in the womb.
A

acquired, during, transmitted

29
Q

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.
A

Rubella
CMV
Herpes Virues
3-9,

30
Q

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

A

rubella, fetus, microcephaly

31
Q

Congenital Disorder: Etiology

  • Radiation- ______
  • Nutritional Deficiencies- _______, iodine
A

X-rays

vitamins

32
Q

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
A 
Fluid
Hormonal
Injury
Radiation
Infections
33
Q

Birth Trauma:

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

physical, before, during, birth

34
Q

Birth Defects: Body Size

  1. _______
  2. ________
    - Achondraplasia
A

Monsters

Dwarfism

35
Q

Birth Defects: Body Size

-Monsters (grossly deformed ______)- e.g. joined twins, parasitized fetus.

A

fetus

36
Q

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.
A 
extremities
epiphyseal
heredity dwarfism
arms, legs
80%

Physiological Pathology (8 decks)

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