Family Planning
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| What is a Barr body? Pg.1376 | It is the secondary X in females. The second X is inactivated in normal healthy females
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| A Barr body is always found in males when testing for sex chromosomes. T/F Pg.1376 | False. Barr body's are only found in females.
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| What is the most common sex chromosome abnormalities in Females? Pg.1376 | Turner syndrome
• 45, XO with no Barr bodies present
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| What is the most common sex chromosome abnormalities in ?Males? Pg.1376 | Klinefelter syndrome
• 47, XXP with one Barr body present
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| What is an important principle when distinguishing autosomal dominant disorders from X-linked disorders? Pg.1376 | Males & females are equally affected
Also a father can pass down the abnormal gene to his son
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| What are some examples of autosomal dominant inherited disorders? Pg.1376 | Huntington disease
Polycystic Kidney Disease
Neurofibromatosis (Von Recklinghausen disease)
Achondroplastic dwarfism
Phocomelia
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| What is phocomelia? Pg.1376 | a developmental anomaly characterized by the absence of the upper portion of limbs; a hand attached to a shoulder
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| What mode of inheritance has a abnormal gene overshadowing a normal gene? Pg.1376 | Autosomal dominant inheritance
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| What mode of inheritance requires the affected individual to have two abnormal genes? Pg.1376 | Autosomal recessive inheritance
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| What are the most common autosomal recessive inherited disorders? Pg.1377 | Sickle cell disease, phenylketonuria, galactosemia, cystic fibrosis, Tay–Sachs disease, & most metabolic diseases
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| What mode of inheritance has an abnormal gene carried on X chromosome? Pg.1377 | X-linked recessive inheritance
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| What are the most common X-linked recessive inheritance disorders? Pg.1377 | Hemophilia, Duchenne muscular dystrophy, color blindness
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| What mode of inheritance results in Vitamin D-resistant rickets & fragile X syndrome? Pg.1377 | X-linked dominant inheritance
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| What are some main characteristics of autosomal dominant inheritance? Pg.1376 | trait heterozygous, Family pedigree shows multiple generations with disorder, Affected individual has 50% chance of passing on the abnormal gene, Males and females equally affected
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| What are some main characteristics of autosomal recessive inheritance? Pg.1376 | two abnormal genes, Carrier is heterozygous for abnormal gene and clinically normal, Affected individual may have clinically normal parents, 25% chance of affected child with each pregnancy
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| What are some main characteristics of X-linked recessive inheritance? Pg.1377 | Sex-linked disorder, Abnormal gene carried on X chromosome, No male-to-male transmission, 50% son will be unaffected & daughter will be carrier
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| What are some main characteristics of X-linked dominant inheritance? Pg.1377 | Rare, Heterozygous females affected, fathers will have affected daughters, No male-to-male transmission
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| What are some main characteristics of fragile X-syndrome? Pg.1377 | Inheritied mental retardation, CNS disorder linked to a “fragile” site on the X chromosome, Male: moderate mental retardation, large protuberant ears, & large testes after puberty Female: do not have abnormal features, 1/3 mildly retarded
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| What are some main characteristics of multifactorial inheritance? Pg.1377 | Interaction of genes and environmental factors, Vary from mild to severe, Often a sex bias,
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| What method of birth control is the least reliable? Pg.1378 a) Natural family planning b) Calendar rhythm method c) Basal body temperature d)ovulation method | b) Calendar rhythm method
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| What are the main characteristics for fertility awareness-based methods (aka natural family planning)? Pg.1378 | free, safe, and acceptable according to our religion, does not involve the use of artificial substances or devices, May interfere with sexual spontaneity, Requires months of charting cycles before use, Requires a lot of motivation and education
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| What are the main patient teaching points for natural family planning? Pg.1378 | Sperm life span 3-6 days, Ovum life span 1-3 days, Maximum fertility for woman occurs 6 days before ovulation, Method requires periods of abstinence & recording certain events throughout cycle, Partner cooperation is important
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| What are the main characteristics for calendar rhythm method(aka standard days method)? Pg.1378 | Based on assumption that ovulation tends to occur 14days before the start of next menstrual cycle, Least reliable
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| What are the main patient teaching points for calendar rhythm method(aka standard days method)? Pg.1378 | To use method women: record menstrual cycles for 6months to identify shortest & longest cycles,1st day of menstruation is first day of cycle, Fertile phase is calculated from 18 days before the end of the shortest recorded cycle through 11days of the long
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| What are the main characteristics for basal body temperature (BBT) method? Pg.1378 | Woman takes temperature on awakening , Before activity, , May interfere with sexual spontaneity
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| What are the main patient teaching points for basal body temperature (BBT) method? Pg.1378 | Record on temperature graph, Use a basal body temperature thermometer or a tympanic, Record for 3-4 months, Temp sometimes drops before ovulation, couple must avoid intercourse the day of temp rise & 3days after
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