Anatomy Block 2: Birth Defects

Front 1

the study of the causes, mechanisms and manifestations of developmental defects of a structural and/or functional nature is called...

Back 1

teratology

Front 2

Etiologies of developmental defects:
1. ________% are multifactorial in nature.
2. _______% are unknown in etiology.

Back 2

1. 20-25%
2. 50-60%

Front 3

Multifactorial etiologies causing developmental defects include __________ and ___________ causes.

Back 3

environmental and genetic

Front 4

an abnormal number of chromosomes other than an exact multiple of the haploid number is called ___________.

Back 4

Aneuploidy

Front 5

the absence of one member of a pair of chromosomes, either autosomes or sex chromosomes

Back 5

monosomes

Front 6

the addition of a third chromosome to a pair of chromosomes, either autosomes or sex chromosomes. fourth? fifth?

Back 6

trisomy, tetrasomy, pentasomy

Front 7

an abnormal number of chromosomes that is an exact multiple of the haploid number

Back 7

polyploidy

Front 8

Turner's syndrome is a ________________ of sex chromosomes.

Back 8

monosomy

Front 9

Broad chest with widely spaced nipples, webbed neck, absence of ovaries (gonadal dysgenesis) and absent sexual maturation, lymphedema of extremities and short stature are all characteristics of what disease?

Back 9

Turner's

Front 10

What is the only monosomy compatible with life?

Back 10

Turner's

Front 11

Trisomy 21, 18 and 13 are all trisomies of (autosomes/sex chromosomes).

Back 11

autosomes

Front 12

Atlantoaxial instability can be found in 15% of patients with ___________.

Back 12

Down's syndrome

Front 13

___% of embryos with down's syndrome are spontaneously aborted.

Back 13

75%

Front 14

The incidence of Down syndrome increases dramatically with maternal age due to an increased incidence of ________________.

Back 14

meiotic nondisjunction

Front 15

What disease?
Tall stature
Broad hips
Testicular atrophy with hyalinized seminiferous tubules
Gynecomastia
Possible mental retardation
An incidence of 1:500 males

Back 15

Klinefelter syndrome

Front 16

Klienfelter syndrome is a ____________ with a _____ karyotype.

Back 16

-trisomy

-47,XXY

Front 17

The most common type of polyploidy is _________. This is mostly fatal.

Back 17

triploidy (3 times the haploid number of chromosomes = 69 chromosomes).

Front 18

In translocation, a piece of a chromosome is transferred onto a ___________.

Back 18

nonhomologous chromosome

Front 19

the transverse rather than longitudinal division of the centromere joining two chromatids is called...

Back 19

isochromosome

Front 20

In cri du chat syndrome, ____________ from chromosome 5 causes the symptoms of a catlike cry, microcephaly, mental retardation, and congenital heart disease.

Back 20

-a partial deletion

Front 21

If translocation between nonhomologous chromosomes is _____________, abnormal development may be avoided.

Back 21

reciprocal

Front 22

____________ usually does not lead to abnormal phenotype but is seen in some cases of hemophilia.

Back 22

Inversion

Front 23

about 15-20% of women with ____________ have isochromosomes

Back 23

Turner syndrome

Front 24

In _______________, the patient has two or more cell lines with different karyotypes resulting from a rare mitotic nondisjunction of chromosomes; either autosomes or sex chromosomes may be involved.

Back 24

mosaicism

Front 25

The antinauseant and sleeping pill ______________ causes total (amelia) or partial (meroamelia/phocomelia) developmental absence of limbs.

Back 25

thalidomide

Front 26

microcephaly, maxillary hypoplasia, short palpebral fissures, joint abnormalities, and cardiovascular defects are characteristics of...

Back 26

fetal alcohol syndrome

Front 27

___________, a folic acid antagonist used to treat leukemia, causes skeletal and central nervous system defects...including anencephaly (no head).

Back 27

Aminopterin

Front 28

___________, ( analogue of vitamin A) used for the oral treatment of severe acne can produce virtually any type of defect.

Back 28

Isotretinoin

Front 29

_______________ causes “fetal hydantoin syndrome,” which includes IUGR, microcephaly, ptosis, nail and/or distal phalangeal hypoplasia.

Back 29

Phenytoin

Front 30

Environmental chemicals such as _______________ can cause severe brain damage, mental retardation, and blindness (fetal Minamata disease).

Back 30

methylmercury

Front 31

_____________ may kill embryonic cells, damage chromosomes, and cause mutations; the CNS is especially vulnerable (microcephaly and spina bifida).

Back 31

Ionizing radiation

Front 32

Oligohydramnios, uterine malformations, fetal growth restraint, amniotic bands are all ___________________ factors that cause developmental defects.

Back 32

mechanical

Front 33

Oligohydramnios is ...

Back 33

too little amniotic fluid

Front 34

Name 3 infectious agents that can cause developmental anomalies.

Back 34

1. Toxoplasma gondii
2. Rubella virus
3. Cytomegalovirus

Front 35

What is the most common viral infection of the human fetus?

Back 35

Cytomegalovirus

Front 36

What is the "TORCH" complex?

Back 36

Embryos or fetuses infected in utero with
TOxoplasma,
Rubella,
Cytomegalovirus, or
Herpes simplex virus
exhibit similar developmental defects (TORCH complex)

Front 37

_____________________ is usually acquired by eating raw or poorly cooked pork or lamb or by close contact with infected cats; results of infection may include HYDROCEPHALUS.

Back 37

Toxoplasma gondii

Front 38

____________ virus causes a syndrome that usually includes cataracts and may include glaucoma.

Back 38

Rubella

Front 39

Cytomegalovirus may result in __________________.

Back 39

microphthalmia (an eye too small)

Front 40

Most congenital malformations result from exposure during the ___________ period.

Back 40

embryonic (weeks 3-8)