Chapter 3 - Structure Abnormalities and Birth Defects
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Congenital Anomaly
Structural or functional abnormality in development present at birth
Malformation
Irregular, anomalous, abnormal. or faulty formation or structure
Deformation
Resulting from maternal mechanical factors
Congenital Malformation
Resulting from abnormal embryonic development, usually genetic
Causes of Abnormalities
• Chromosomal • Congenital disorders • Birth Trauma • Specific birth defects
How do hereditary factors received from ancestors pass to?
Offspring
How many chromosomes does the normal human have?
46
How are somatic cells reproduced?
By Mitosis
How are Germ cells reproduced?
By Meiosis
The usual Male karyotype?
46,XX
Usual Female karyotype
46,XY
Chromosomal Abnormalities
Too few sex chromosomes
Turners Syndrome and the symptoms of it
Too many sex chromosomes; 45XO Short Broad underdeveloped breasts Infertile
Klinefelters Syndrome and symptoms of it
Too many autosomal chromosomes; 47XXY Usually sterile
Downs Syndrome
Trisomy 21 = Three copies of chromosome 21
Edwards Syndrome
Trisomy 18 = Three copies of chromosome 18 Usually fatal within 3 months
Patau Syndrome
Trisomy 13 = Three copies of chromosome 13 Physical abnormalities
Teratogen
Anything that adversely affects normal cellular development in the embryo or fetus.
Fetal alcohol/ Fetal Narcotic Syndrome
Present in infants born to mother who consumed alcohol or narcotics during the pregnancy
Torch
Group of infections acquired by woman during pregnancy and transmitted to the child in the womb
Torch Teratogens List (ToRCH)
• Toxoplasmosis • Rubella • Cytomegalovirus • Herpes Virus
Congenital Rubella Syndrome
Rubella virus crosses the placenta to fetus; causes microcephaly. learning disorder, deafness, heart defects
Monsters
Grossly deformed fetus
Achondroplasia (hereditary Dwarfism)
Abnormal development of epiphyseal cartilage