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Test Bank for The Developing Human Clinically Oriented Embryology, 8th Edition, Moore, ISBN-

Test Bank for The Developing Human Clinically


Oriented Embryology, 8th Edition, Moore, ISBN-10:
1416037063, ISBN-13: 9781416037064

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Test Bank 7-
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Moore: The Developing Human, 8th Edition

Copyright © 2013, 2008, 2003, 1998, 1993, 1988, 1982, 1977, 1973 by Saunders, an imprint of Elsevier Inc.
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Chapter 07: Human Birth Defects

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MULTIPLE CHOICE

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Directions: Each group of questions below consists of a numbered list of descriptive words
or phrases. For each numbered word or phrase, select the lettered part or heading that
matches it correctly and then insert the letter in the space to the right of the appropriate
number. Sometimes more than one numbered word or phrase may be correctly matched to
the same letter.

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1. ________ Webbed neck and short stature

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A. 47, XXX
B. 45, XO
C. Trisomy 18
D. Trisomy 21
E. 47, XXY

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ANS: B

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Webbed neck and short stature are associated with Turner syndrome (ovarian dysgenesis).
These females have 44 autosomes and only 1 X chromosome. In the newborn period, these
infants usually exhibit marked edema of the feet and webbing of the neck. The ovaries
commonly consist of only connective tissue streaks. This condition is not recognized in many
of these girls until they reach puberty (12 to 15 years), at which time they seek medical
advice about primary amenorrhea (failure of menstruation to begin) and the lack of
secondary sex development.

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2. ________ Mental deficiency (retardation), low-set ears, and early postnatal death

Copyright © 2013, 2008, 2003, 1998, 1993, 1988, 1982, 1977, 1973 by Saunders, an imprint of Elsevier Inc.
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A. 47, XXX
B. 45, XO
C. Trisomy 18
D. Trisomy 21
E. 47, XXY

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ANS: C

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Infants with trisomy 18 have multiple major anomalies. Like those with the less common
trisomy 13 syndrome, these infants have a severe mental defect and die during early infancy.
Trisomy 18 is much more severe than Down syndrome, and females are more often affected
(about 78% of these infants are female).

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3. ________ Normal female appearance and usually fertile

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A. 47, XXX
B. 45, XO
C. Trisomy 18
D. Trisomy 21
E. 47, XXY

ANS: A
Most females with the triple X chromosome abnormality appear normal and are fertile. These
women have two sex chromatin masses in their cells because of the presence of the extra X
chromosome. Some triple X females have borne children, all of whom are normal and have
normal karyotypes. Most females with four or more X chromosomes are also physically
normal but severely retarded.

4. ________ Small testes and hyalinization of the seminiferous tubules


A. 47, XXX
B. 45, XO
C. Trisomy 18
D. Trisomy 21
E. 47, XXY

ANS: E
XXY males appear normal at birth. Small testes and hyalinization of the seminiferous tubules
are the constant characteristics of postpubertal XXY males with Klinefelter syndrome. The
secondary sexual characteristics usually are poorly developed, and many of these males are
tall and eunuchoid. Subnormal mentality is common.

5. ________ The most common numerical autosomal abnormality


A. 47, XXX
B. 45, XO
C. Trisomy 18
D. Trisomy 21
E. 47, XXY

ANS: D
Trisomy 21 is the most common type of numerical autosomal abnormality, occurring about
once in 600 neonates. The cause of the chromosomal abnormality (trisomy of chromosome
21) is nondisjunction during oogenesis, usually in older mothers. About 4% of people with
Down syndrome have the extra 21 chromosome attached to another chromosome (usually
number 14).

6. ________ Female with chromatin-negative nuclei


A. 47, XXX
B. 45, XO

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C. Trisomy 18
D. Trisomy 21
E. 47, XXY

ANS: B
Females with Turner syndrome (45, XO) were among the first subjects studied when accurate
chromosomal analyses became possible in 1958. Sex chromatin studies had shown a few
years earlier that these females had chromatin-negative nuclei. Some females with stigmata
of Turner syndrome are chromatin-positive because they are mosaics (i.e., they have a 45, X
cell line and a normal 46, XX cell line).

7. ________ Strong association with late maternal age


A. 47, XXX
B. 45, XO
C. Trisomy 18
D. Trisomy 21
E. 47, XXY

ANS: D
Infants with Down syndrome are usually born to older mothers. The mean maternal age is
about 35 years compared with 28 in a control population. The older name for this condition
is mongolism, coined because of the somewhat slanting look of the eyes. It is an
inappropriate name and should not be used.

8. ________ Mental retardation, simian crease, and heart defect


A. 47, XXX
B. 45, XO
C. Trisomy 18
D. Trisomy 21
E. 47, XXY

ANS: D
Infants with Down syndrome are mentally retarded (IQ commonly is in the 25 to 50 range)
and have heart defects. The single transverse crease (simian crease) in place of the usual
curved crease is found in about 50% of people with the syndrome. It is also found in people
with other chromosomal abnormalities and in about 1% of normal people. The presence of a
simian crease does not necessarily indicate a chromosomal abnormality and Down syndrome,
but it is a useful criterion when associated with other characteristics (mental retardation
hypotonia, epicanthal folds, furrowed and protruding tongue).

9. ________ Sterile male with chromatin-positive nuclei


A. 47, XXX
B. 45, XO

Copyright © 2013, 2008, 2003, 1998, 1993, 1988, 1982, 1977, 1973 by Saunders, an imprint of Elsevier Inc.
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C. Trisomy 18
D. Trisomy 21
E. 47, XXY

ANS: E
Males with chromatin-positive nuclei have Klinefelter syndrome or a related condition.
Newborn males appear normal, but the testes remain abnormally small as puberty approaches
owing to hyalinization of the seminiferous tubules. Consequently, they are sterile. Secondary
sexual characteristics develop poorly, and gynecomastia (enlargement of breasts) may occur.
These men typically are tall and eunuchoid and may have a subnormal mentality.

10. ________ Antitumor agent and potent teratogen


A. Cytomegalovirus
B. Androgenic agents
C. Thalidomide
D. Toxoplasma gondii
E. Aminopterin

ANS: E
Aminopterin, an antitumor agent, is also a potent human teratogen. Methotrexate, a
derivative of aminopterin, is also teratogenic. These agents produce a wide range of severe
skeletal defects and anomalies of the central nervous system (CNS). Aminopterin may
produce meroanencephaly (anencephaly), intrauterine growth retardation, and many other
CNS abnormalities.

11. ________ Intracellular parasite often found in cats


A. Cytomegalovirus
B. Androgenic agents
C. Thalidomide
D. Toxoplasma gondii
E. Aminopterin

ANS: D
Toxoplasma gondii is an intracellular parasite. It infects many birds and mammals (especially
cats), in addition to some humans. Toxoplasmosis, the disease caused by this microorganism,
can be contracted from eating raw meat or through contact with infected animals (e.g.,
rabbits). The parasite affects the fetus during the second and third trimesters, producing
microcephaly, microphthalmia, hydrocephaly, and chorioretinitis.

12. ________ Potent teratogen that affects limb development


A. Cytomegalovirus
B. Androgenic agents
C. Thalidomide

Copyright © 2013, 2008, 2003, 1998, 1993, 1988, 1982, 1977, 1973 by Saunders, an imprint of Elsevier Inc.
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D. Toxoplasma gondii
E. Aminopterin

ANS: C
Thalidomide produces severe limb anomalies in the embryo if taken by the mother during the
first trimester. As little as 200mg of this sedative and antinauseant may cause limb defects,
cardiac defects, and ear anomalies.

13. ________ May cause masculinization of female fetuses


A. Cytomegalovirus
B. Androgenic agents
C. Thalidomide
D. Toxoplasma gondii
E. Aminopterin

ANS: B
Androgenic agents and certain progestins administered to prevent abortion may cause
masculinization of female fetuses. The substances known to cause these anomalies are
ethisterone and norethisterone. All substances with known androgenic properties may cause
masculinization if administered during the early part of the first trimester of pregnancy.

14. ________ Mother may be infected with it by eating poorly cooked meat
A. Cytomegalovirus
B. Androgenic agents
C. Thalidomide
D. Toxoplasma gondii
E. Aminopterin

ANS: D
A mother may become infected with the parasite Toxoplasma gondii by eating raw or poorly
cooked meat (e.g., rabbit) that contains the microorganism. She may contract toxoplasmosis
from infected birds, animals, or people. If the parasite crosses the placental membrane, it
causes maldevelopment during the fetal period. It causes microcephaly, microphthalmia,
hydrocephaly, and chorioretinitis. There is no proof that the parasite affects development
during organogenesis (i.e., during the embryonic period).

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