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Pathology > Goljan's Genetic and Developmental Disorders > Flashcards

Goljan's Genetic and Developmental Disorders Flashcards

1
Q

What is the definition of a mutation?

A

Permanent change in DNA

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2
Q

What type of mutation can be transmitted to offspring?

A

Germ cell mutations

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3
Q

What type of mutations cannot be transmitted to offspring?

A

Somatic cell mutations

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4
Q

What is a point mutation?

A

Change in a single nucleotide base within a gine

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5
Q

What is a silent mutation?

A

Altered DNA codes for same amino acid; no phenotypic effect

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6
Q

What is a missense mutation?

A

Altered DNA codes for different amino acid; change in phenotypic effect

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7
Q

What type of mutation causes sickle cell disease and trait?

A

Missense mutation

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8
Q

What is a nonsense mutation?

A

Altered DNA codes for a stop codon; leads to premature termination of protein synthesis

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9
Q

What type of mutation causes β-thalassemia major?

A

Nonsense mutation; no synthesis of β-globin chain

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10
Q

What is a frameshift mutation?

A

Insertion or deletion of 1 or more nucleotides that is not a multiple of 3

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11
Q

What type of mutation causes Tay-Sachs disease?

A

4 base insertion; ↓synthesis of hexosaminidase A

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12
Q

What happens if the number of base pairs deleted or added is a multiple of 3?

A

Translated protein has either gained or lost amino acids

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13
Q

What type of mutation causes cystic fibrosis?

A

3-nucleotide deletion; phenylalanine lost from CFTR (degraded in Golgi)

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14
Q

What is the effect of trinucleotide repeat disorders?

A

Produce DNA replication errors

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15
Q

What are trinucleotide repeats?

A

Amplified sequence of 3 nucleotides; prevent normal gene expression

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16
Q

What are some examples of trinucleotide repeat disorders?

A

Fragile X syndrome: CGG

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17
Q

When does amplification occur?

A

Depends on sex of transmitting parent

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18
Q

What determines the disease severity of trinucleotide repeat disorders?

A

Number of triplet repeats

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19
Q

What disorders are caused by amplifications that occur in noncoding regions?

A

Fragile X syndrome

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20
Q

What is the effect of anticipation?

A

↑disease severity in future generations

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21
Q

What disorders are caused by amplifications that occur in coding regions?

A

Huntington disease

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22
Q

What is the CAG codon?

A

Codes for glutamine residues; amplification produces polyglutamine disorders (neurodegenerative)

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23
Q

What is the effect of misfolded protein aggregates?

A

Suppression of transcription

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24
Q

What are mendelian disorders?

A

Single-gene mutations that produce large effects

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25
Q

What are the characteristics of a dominant phenotype?

A

Expressed when only one chromosome of a pair carries the mutant allele

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26
Q

What are the characteristics of a recessive phenotype?

A

Expressed when both chromosomes of a pair carry mutant alleles

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27
Q

What are the patterns of transmission in mendelian disorders?

A

Autosomal recessive

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28
Q

What is the most common type of mendelian disorder?

A

Autosomal recessive

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29
Q

What is the genotypic probability in the offspring of two heterozygotes?

A

Aa x Aa:

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30
Q

What are some characteristics of autosomal recessive disorders?

A

Complete penetrance

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31
Q

What characterizes the diseases caused by autosomal recessive disorders?

A

Most involve enzyme deficiencies

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32
Q

What are the physiologic consequences of an enzyme deficiency?

A

↑substrate proximal to block

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33
Q

What is the characteristic finding in lysosomal storage diseases?

A

Undigested substrates (glycosaminoglycans, sphingolipids, glycogen) accumulate in lysosomes

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34
Q

What are the underlying mechanisms that cause glycogenoses?

A

↑synthesis of glycogen

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35
Q

What symptoms are commonly found in glycogenoses?

A

Organ dysfunction

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36
Q

What is the most common autosomal recessive disorder?

A

Hemochromatosis

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37
Q

What are the characteristics of autosomal dominant disorders?

A

Heterozygotes express the disorder

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38
Q

What happens to germline homozygotes of autosomal dominant diseases?

A

Spontaneously aborted; means that most individuals with autosomal dominant disorders are heterozygotes at birth

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39
Q

What is the genotypic probability in the offspring of an autosomal dominant heterozygote with a homozygous normal spouse?

A

Aa x aa:

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40
Q

What is the origin of most new mutations?

A

Germ cells of elderly males (paternally inherited)

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41
Q

When do autosomal dominant disorders typically present?

A

Many have delayed manifestations: symptoms/signs occur later in life

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42
Q

What is the definition of complete penetrance?

A

All individuals with mutation express disease

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43
Q

What are the characteristics of incomplete penetrance?

A

Phenotypically normal; transmit disease to children

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44
Q

What is the definition of variable expressivity?

A

Express disease but severity varies

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45
Q

What is the most common autosomal dominant disorder?

A

von Willebrand disease

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46
Q

What is the typical presentation of an X-linked recessive disorder?

A

Male with mutant gene on X chromosome

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47
Q

What do Y chromosome disorders typically involve?

A

Defects in spermatogenesis

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48
Q

Why are males invariably affected by X-linked recessive disorders?

A

All X chromosomes in males are active

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49
Q

What characterizes the offspring of males with X-linked recessive disorders?

A

All daughters are asymptomatic carriers

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50
Q

Why are females unaffected by X-linked recessive disorders?

A

Not symptomatic because they have a paired normal allele (Xx)

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51
Q

What characterizes the offspring of female carriers of X-linked recessive disorders?

A

50% of sons are symptomatic

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52
Q

What do X-linked recessive diseases usually involve?

A

Enzyme deficiencies

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53
Q

What is the most common mendelian disorder causing mental retardation?

A

Fragile X syndrome

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54
Q

What is the pathogenesis of fragile X syndrome?

A

Genetic defect in the distal end of long arm of X chromosome (band Xq27.3)

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55
Q

What gene is located at the fragile X site?

A

FMR1: familial mental retardation gene

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56
Q

What occurs in females with a full fragile X mutation (>200 CGG repeats) on one of their X chromosomes?

A

Normal or mild ↓IQ with or without premature ovarian failure

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57
Q

What neurological findings are associated with fragile X syndrome?

A

Mental retardation (IQ 20-70)

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58
Q

What physical findings are associated with fragile X syndrome?

A

Long face

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59
Q

What distinctive physical finding develops when males with fragile X syndrome reach puberty?

A

Macro-orchidism

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60
Q

What is the best diagnostic test for fragile X syndrome?

A

DNA analysis for trinucleotide repeats

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61
Q

What is Lesch-Nyhan syndrome?

A

Deficiency of HGPRT; involved in salvaging purines

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62
Q

What findings are associated with Lesch-Nyhan syndrome?

A

Mental retardation

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63
Q

How do X-linked dominant disorders differ from X-linked recessive disorders?

A

Female carriers are asymptomatic

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64
Q

What is an example of an X-linked dominant disorder?

A

Vitamin D-resistant rickets: defect in renal/gastrointestinal reabsorption of phosphate

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65
Q

What is the chromosomal makeup of most human cells?

A

46 chromosomes: 22 pairs of autosomes and 1 pair of sex chromosomes

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66
Q

What is the chromosomal makeup of gametes?

A

Haploid: 23 chromosomes

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67
Q

What is a Barr body?

A

Inactivated X chromosome

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68
Q

How many Barr bodies are in each cell?

A

ERROR!

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69
Q

What is the definition of nondisjunction?

A

Unequal separation of chromosomes in meiosis

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70
Q

What is the definition of mosaicism?

A

Nondisjunction in mitosis; most often involves sex chromosomes

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71
Q

What is the definition of translocation?

A

Transfer of chromosome parts between nonhomologous chromosomes

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72
Q

What occurs in a Robertsonian translocation?

A

Balanced translocation between acrocentric chromosomes (ie 14:21)

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73
Q

What term describes the loss of a portion of a chromosome?

A

Deletion

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74
Q

What causes Cri du chat syndrome?

A

Deletion of the short arm of chromosome 5

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75
Q

What are the findings in Cri du chat syndrome?

A

Mental retardation

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76
Q

What is the underlying mechanism of most cases of Down syndrome?

A

Nondisjunction?

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77
Q

What factor is associated with ↑risk for offspring with trisomy syndrome?

A

Advanced maternal age

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78
Q

What is the most common chromosomal abnormality causing mental retardation?

A

Down syndrome

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79
Q

What is the most common cause of floppy baby syndrome?

A

Down syndrome

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80
Q

What features of general appearance found in Down syndrome?

A

Muscle hypotonia

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81
Q

What is a major factor affecting early childhood survival in Down syndrome?

A

Congenital heart defects

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82
Q

What is the most common heart defect in Down syndrome?

A

Endocardial cushion defect

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83
Q

What gastrointestinal abnormalities are associated with Down syndrome?

A

Duodenal atresia

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84
Q

What hematologic abnormalities are associated with Down syndrome?

A

↑risk for leukemia:

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85
Q

What CNS abnormalities are associated with Down syndrome?

A

Alzheimer disease at young age

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86
Q

What immune defects are associated with Down syndrome?

A

Hashimoto thyroiditis

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87
Q

What fertility abnormalities are associated with Down syndrome?

A

Males usually infertile

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88
Q

What triple test results are diagnostic for Down syndrome?

A

↓serum AFP

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89
Q

What syndrome describes trisomy 18?

A

Edwards syndrome

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90
Q

What are the clinical findings of Edwards syndrome?

A

Mental retardation

91
Q

What syndrome describes trisomy 13?

A

Patau syndrome

92
Q

What are the clinical findings of Patau syndrome?

A

Mental retardation

93
Q

What is the most common sex chromosome abnormality in females?

A

Turner syndrome; accounts for 15% of spontaneous abortions

94
Q

What karyotype abnormalities cause Turner syndrome?

A

45,X

95
Q

What complications are associated with 45,X/46,XY mosaicism?

A

↑risk for gonadoblastoma of ovary

96
Q

What is the most common cause of Turner syndrome?

A

Mosaicism

97
Q

What physical features is the cardinal sign of Turner syndrome

A

Short stature (due to loss of SHOX gene)

98
Q

What is the function of the SHOX gene?

A

Critical for growth regulation

99
Q

What physical findings are associated with Turner syndrome?

A

Shield chest

100
Q

What lymphatic abnormalities are associated with Turner syndrome?

A

Lymphedema in the hands, feet, and neck (webbed neck)

101
Q

What cardiovascular abnormalities are associated with Turner syndrome?

A

Hypoplastic left heart

102
Q

What is a common cause of mortality in infants with Turner syndrome?

A

Hypoplastic left heart

103
Q

What are streak gonads?

A

Ovaries devoid of oocytes; associated with risk for dysgerminoma

104
Q

What phrase summarizes the hormonal state in Turner syndrome?

A

Menopause before menarche

105
Q

What is the most common genetic cause of primary amenorrhea?

A

Turner syndrome

106
Q

How does Turner syndrome cause primary amenorrhea?

A

↓estradiol/progesterone

107
Q

What is a key cytologic finding of Turner syndrome?

A

No Barr bodies in buccal smear

108
Q

What is the most common cause of male hypogonadism?

A

Klinefelter syndrome

109
Q

What causes Klinefelter syndrome?

A

Nondisjunction produces 47 chromosomes (XXY)

110
Q

What is the most common cause of Klinefelter syndrome?

A

Mosaicism (46,XY/47,XXY)

111
Q

What pathophysiology underlies the finding of hypogonadism in Klinefelter syndrome?

A

↑FSH → ↑aromatase synthesis → ↑conversion of testosterone to estradiol in Leydig cells

112
Q

What is the typical testicular histology in Klinefelter syndrome?

A

Testicular atrophy

113
Q

What are the consequences of testicular atrophy in Klinefelter syndrome?

A

↓testosterone and inhibin; ↑LH and FSH, respectively

114
Q

What genes are located on the X chromosome?

A

Androgen receptors

115
Q

What determines the functional response of testosterone in the androgen receptor?

A

Androgen receptor contains CAG trinucleotide repeats; testosterone response depends on number of repeats

116
Q

With which receptors does testosterone react best?

A

Androgen receptors containing the lowest amount of CAG repeats

117
Q

Which happens to the androgen receptors in Klinefelter syndrome?

A

Androgen receptors with least amount of CAG repeats are preferentially inactivated

118
Q

When do the physical findings of Klinefelter syndrome typically present?

A

Male hypogonadism and feminization begins at puberty

119
Q

What feminization signs are associated with Klinefelter syndrome?

A

Female body hair distribution

120
Q

What is the characteristic body habitus of patients with Klinefelter syndrome?

A

Eunuchoid proportions with disproportionately long legs

121
Q

Which variants of Klinefelter syndrome have lower IQs?

A

Variants with >2X chromosomes

122
Q

What additional abnormalities are associated with Klinefelter syndrome?

A

Mitral valve prolapse

123
Q

What are the characteristics of XYY syndrome?

A

Paternal nondisjunction

124
Q

What mechanism underlies multifactorial inheritance?

A

Interaction of genetic and environmental factors

125
Q

What are some examples of disorders with multifactorial inheritance?

A

Neural tube defects

126
Q

What does mitochondrial DNA encode?

A

Enzymes in oxidative phosphorylation

127
Q

What is the inheritance pattern of mitochondrial DNA disorders?

A

Maternal inheritance; ova have mutant gene

128
Q

What is genomic imprinting?

A

Expression of disease phenotype depends on whether mutant allele is inherited from father or mother

129
Q

What imprinting pattern occurs in normal maternal gametogenesis?

A

PW gene imprinted, Angelman gene activated

130
Q

What imprinting pattern occurs in normal paternal gametogenesis?

A

PW gene activated, Angelman gene imprinted

131
Q

What causes Prader-Willi syndrome?

A

Microdeletion of paternal 15; complete loss of PW genes expression

132
Q

What causes Angelman syndrome?

A

Microdeletion of maternal 15; complete loss of Angelman gene expression

133
Q

What are the clinical findings in Prader-Willi syndrome?

A

Hypotonia

134
Q

What are the clinical findings in Angelman syndrome?

A

Mental retardation

135
Q

What gene determines male sex?

A

Single gene on Y chromosome

136
Q

What is the SRY gene?

A

Sex-determining gene on Y chromosome

137
Q

What effects are mediated by the SRY gene?

A

SRY gene produces testis-determining factor → undifferentiated gonad becomes a testis

138
Q

What is the function of Müllerian inhibitory substance?

A

Causes paramesonephric duct to undergo apoptosis

139
Q

What is the function of fetal testosterone?

A

Development of mesonephric duct structures → epididymis, seminal vesicles, vas deferens

140
Q

How is the function of 5α-reductase?

A

Converts testosterone to DHT

141
Q

What is the function of fetal DHT?

A

Development of scrotum, penis, prostate gland

142
Q

What occurs in the absence of a Y chromosome?

A

Undifferentiated gonads develop into ovaries

143
Q

What structures originate from the paramesonephric ducts?

A

Fallopian tubes

144
Q

How is the vagina formed?

A

Sinus tubercle fuses with urogenital sinus → sinovaginal bulbs → vaginal plate → vagina

145
Q

What are the characteristics of a true hermaphrodite?

A

Testis on one side, ovary on the other side

146
Q

What are the characteristics of a pseudohermaphrodite?

A

Phenotype and genotype do not match

147
Q

What are the characteristics of a male pseudohermaphrodite?

A

Genotype: XY

148
Q

What is the most common cause of male pseudohermaphroditism?

A

Androgen insensitivity syndrome

149
Q

What are the characteristics of a female pseudohermaphrodite?

A

Genotype: XX

150
Q

What is the most common cause of female pseudohermaphroditism?

A

Adrenogenital syndrome

151
Q

What is the inheritance pattern of androgen insensitivity syndrome?

A

X-linked recessive

152
Q

What causes androgen insensitivity syndrome?

A

Loss-of-function mutation in androgen receptor gene on the X chromosome

153
Q

What is the pathogenesis of androgen insensitivity syndrome?

A

Prenatal undervirilization of external genitalia; loss of pubertal male changes

154
Q

What clinical finding is present at birth in androgen insensitivity syndrome?

A

Testicles in inguinal canal or abdominal cavity at birth

155
Q

What effect does androgen insensitivity syndrome have on the internal reproductive structures?

A

Absence of fallopian tubes, uterus, cervix, upper vagina (functional MIS)

156
Q

What effect does androgen insensitivity syndrome have on the external reproductive structures?

A

Female external genitalia with blind vaginal pouch (no fetal DHT effect)

157
Q

How does androgen insensitivity syndrome typically present?

A

Primary amenorrhea as a teenager

158
Q

Why should the testes be removed in androgen insensitivity syndrome?

A

Testes at risk for gonadoblastoma

159
Q

What laboratory findings are associated with androgen insensitivity syndrome?

A

Normal testosterone/DHT

160
Q

What is the definition of a congenital anomaly?

A

Defect recognized only at birth

161
Q

What is the most common cause of death in children

A

Congenital anomalies

162
Q

What are the major causes of congenital anomalies?

A

Genetic, maternal, multifactorial

163
Q

What is the most common genetic cause of congenital anomalies?

A

Chromosome aberrations

164
Q

What congenital anomalies are associated with maternal diabetes?

A

Macrosomia due to hyperinsulinemia, ↑muscle mass and fat

165
Q

What congenital anomalies are associated with maternal SLE?

A

Congenital heart block due to anti-Ro antibodies

166
Q

What congenital anomalies are associated with maternal hypothyroidism?

A

Danger of cretinism in newborn; severe mental retardation

167
Q

What is the most common teratogen?

A

Alcohol: causes fetal alcohol syndrome

168
Q

What infections are commonly associated with congenital anomalies?

A

TORCH syndrome:

169
Q

What finding indicates congenital infection?

A

↑cord blood IgM

170
Q

What are the mechanisms of vertical transmission?

A

Transplacental (most common)

171
Q

What is the overall most common cause of congenital anomalies?

A

Multifactorial inheritance disorders

172
Q

What causes congenital malformations?

A

Disturbance in morphogenesis in embryonic period

173
Q

Which period in embryologic development is most susceptible to malformations?

A

4th-5th week

174
Q

What are the three germ cell layers?

A

Ectoderm

175
Q

What causes congenital deformations?

A

Extrinsic disturbance in fetal development after fetal organs have developed

176
Q

What is the most common cause of congenital deformations?

A

Most often due to uterine constraint; maternal/placental factors

177
Q

What deformation is caused by oligohydramnios?

A

Potter facies, club feet

178
Q

What is the definition of a congenital disruption?

A

Destruction of irreplaceable normal tissue

179
Q

What causes an amniotic band?

A

Rupture of amnion; encircling fibrous bands constrict fetal parts (e.g., digits)

180
Q

What is the definition of agenesis?

A

Complete absence of an organ due to absence of primordial tissue

181
Q

What is the definition of aplasia?

A

Primordial tissue present but no development into an organ

182
Q

What is the definition of hypoplasia?

A

Incomplete development of primordial tissue; tissue histologically normal

183
Q

What is the definition of atresia?

A

Incomplete formation of lumen

184
Q

How does the timing of a teratogenic insult affect the pathogenesis of congenital anomalies?

A

Malformations occur during embryonic period (week 3-9)

185
Q

What is the effect of retinoic acid on morphogenesis?

A

Disrupts Hox gene function

186
Q

What are Hox genes?

A

Involved in patterning of craniofacial structures, vertebrae, limbs

187
Q

What is the definition of stillbirth?

A

Birth of a dead child

188
Q

What is the most common cause of stillbirth?

A

Abruptio placentae

189
Q

What is the definition of spontaneous abortion?

A

Termination of pregnancy before 20 weeks

190
Q

What is the most common complication of early pregnancy?

A

Spontaneous abortion

191
Q

What is the most common cause of spontaneous abortion?

A

Trisomy 16

192
Q

What is sudden infant death syndrome?

A

Sudden unexpected death of a healthy infant

193
Q

What is the most common cause of infant death between the ages of 1 month and 1 year in the US?

A

Sudden infant death syndrome (majority of deaths occur before 6 months)

194
Q

What is the pathogenesis of sudden infant death syndrome?

A

Multifactorial; maternal/infant risk factors

195
Q

What is the most common autopsy finding in sudden infant death syndrome?

A

Petechiae: sign of tissue hypoxia

196
Q

What CNS changes are found on autopsy in sudden infant death syndrome?

A

Brainstem: hypoplasia of the arcuate nucleus, astrogliosis

197
Q

What group of newborns has the highest mortality rate?

A

Small for gestational age (SGA)

198
Q

What is the most common cause of newborns that are large for gestational age (LGA)?

A

Maternal diabetes

199
Q

What is the definition of prematurity?

A

Gestational age

200
Q

What is the most common cause of neonatal death/morbidity?

A

Prematurity

201
Q

What is the most common cause of prematurity?

A

Premature rupture of membranes

202
Q

What is chrioamnionitis?

A

Inflammation of placental membranes

203
Q

What is funisitis?

A

Inflammation of umbilical cord

204
Q

What complications are associated with prematurity?

A

Respiratory distress syndrome

205
Q

What is the pathogenesis of intrauterine growth retardation?

A

Maternal factors most often responsible

206
Q

How do fetal causes of intrauterine growth retardation typically present?

A

Symmetrical growth retardation

207
Q

How do placental causes of intrauterine growth restriction typically present?

A

Asymmetric growth retardation; brain spared

208
Q

What amniotic finding is highly associated with intrauterine growth retardation?

A

Oligohydramnios

209
Q

What is the definition of the neonatal period?

A

First 4 weeks of life

210
Q

What are the common causes of death in the neonatal period?

A

Respiratory distress syndrome

211
Q

What is the function of amniocentesis?

A

Identifies prenatal genetic defects

212
Q

What is amniotic fluid composed of?

A

Primarily fetal urine; contains fetal cells

213
Q

Where can AFP be detected?

A

Amniotic fluid and maternal serum

214
Q

What is the function of chorionic villus sampling?

A

Detects fetal abnormalities earlier than amniocentesis

215
Q

What is the function of ultrasonography in pregnancy?

A

Assessment of fetal age/sex/viability, multiple pregnancies, and fetal morphologic abnormalities

216
Q

What are the characteristics of an open neural tube defect?

A

Caused by folate acid deficiency before conception; ↑AFP

217
Q

How are AFP levels affected in Down syndrome?

A

↓AFP

218
Q

How are serum hCG levels affected in Down syndrome

A

↑serum hCG

219
Q

How are urine unconjucated estradiol levels affected in Down syndrome?

A

↓urine unconjugated estradiol

220
Q

What tests can be used in genetic analysis?

A

Chromosome karyotyping

221
Q

What mechanisms are involved in the Stochastic theories of aging?

A

Somatic mutation

222
Q

What is the main hypothesis of the programmed cell death theory?

A

Aging is genetically determined

223
Q

What are age-dependent changes?

A

Inevitably occur with age

224
Q

What are age-related changes?

A

Common but not inevitable

Pathology (3 decks)

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