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Chapter 31. Congenital Malformations And Their Causes - Review of Medical Embryology Book - LifeMap Discovery

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EMBRYONIC DEVELOPMENT & STEM CELL COMPENDIUM

31. Congenital Malformations And Their Causes

Review of MEDICAL EMBRYOLOGY Book by BEN PANSKY, Ph.D, M.D.
30. Multiple Pregnancies

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I. Anomalies of development

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32. Congenital Malformations And Their Causes: Human Malf

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A. ETIOLOGIC FACTORS: malformations develop as a result of 3

mechanisms
1. Noxious influence of external factors during the first phase of
development. This type of teratogenic agent has been studied
experimentally
2. Transmission of a genetic abnormality by the parents: is
inscribed in the genetic code of one or both parents and
transmitted according to the laws of heredity
a. The fetus may be the carrier of a purely molecular
abnormality, such as hemophilia, due to the absence of
a globulin necessary for coagulation
This molecular abnormality also may be translated on
the cellular scale: an abnormal hemoglobin can bring
about a visible RBC deformity
b. More rarely, certain metabolic anomalies bring about a
morphologically visible malformation, such as the
dwarfism and body deformities of achondroplasia
c. Chromosome aberration existing in one of the gametes
or appearing during the first division
i. The mechanism can result in an abnormality of
chromosome constitution at the time of
gametogenesis
ii. At fertilization, the zygote resulting from the
above gamete will have an abnormal karyotype
which will be transmitted to all cells of the
embryo. Thus, the abnormality can involve
either an autosome or a sex chromosome
B. AUTOSOMAL ABERRATIONS
1. The most frequent is mongolism or Down's syndrome which is
caused by trisomy 21; that is, chromosome pair 21 consists of
3 chromosomes instead of One gamete, the ovum (most
frequently abnormal) carries two 21 chromosomes, whereas
the other, the spermatozoon, normally carries only on The
zygote thus contains three 21 chromosomes and 47
chromosomes in total
a. Characteristics: mental deficiency, brachycephaly, flat
nasal bridge; slant to eyelid fissures; protruding tongue,
simian crease, congenital heart defects
2. Trisomy 17-18 results in mental retardation, congenital heart
defects, low-set ears, and flexion of the fingers and hands
a. Frequently see micrognathia, renal anomalies,
syndactyly, and skeletal malformations
b. Seen in about 0.3 of 1000 births, and infants usually die
by the age of 2 months
3. Trisomy 13-15 results in mental retardation, congenital heart
defects, deafness, and cleft lip and palat Also shows
microphthalmia, anophthalmia, and coloboma
a. Incidence is about 0.2 per 10,000 newborns. Most die
by 3 months

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Chapter 31. Congenital Malformations And Their Causes - Review of Medical Embryology Book - LifeMap Discovery
C. SEX CHROMOSOME ABERRATIONS
1. Appear to be more frequent than autosomal abnormalities, but
this may be due to the fact that the latter usually lead to
precocious death of the embryo
2. Initiated by a chromosomal anomaly of the ovum; 2 major sex
chromosome aberrations are described
a. Turner's syndrome: the ovum does not carry any sex
chromosome; there is a female phenotype
(appearance), and one sees dwarfism, malformation,
and gonadal aplasia or dysgenesis
All cells are sex-chromatin negative, and cells have only
45 chromosomes with an XO chromosomal complement
Usually due to nondisjunction in male gamete during
meiosis
b. Klinefelter's syndrome: the ovum carries 2 sex
chromosomes; the phenotype is male, and one notes
sterility, testicular atrophy, hyalinization of the
seminiferous tubules, and usually gynecomastia
Cells have 47 chromosomes with a sex chromosomal
complement of XXY type, and a sex chromatin body is
seen in 80% of cases
Seen in 1 of 500 male births; caused by nondisjunction
of the XX homologs
c. Triple-X syndrome: from fertilization of an XX oocyte by
an X sperm
Patients are infantile with scanty menses and a degree
of mental retardation
Have 2 sex chromatin bodies in their cells and are called
"superfemale"
Some are of proven fertility, and offspring may be
normal

30. Multiple Pregnancies

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