Case and source map
What the supplied questions test
Every case and lecture question that belongs to this chapter, the concept it tests, and the place in the chapter where you practise it. Lecture coverage, case coverage and original practice are labelled separately.
Case map
- Ch. V Q1 (p.2)5.5Fetal alcohol syndrome: microcephaly, thin upper lip, low nasal bridgeAlso Ch. 6 (alcohol).Practise in 5.5 knowledge check
- Ch. V Q2 (p.3, image)5.6Anencephaly → ↑ AFP5.3 (NTD, folate).Option B is “inhibin B”; the Down screening marker is inhibin A. Distractor only.Practise in 5.6 knowledge check (with the case image)
- Ch. V Q3 (p.4, image)5.1Marfan syndrome → autosomal dominantPractise in 5.1 knowledge check (with the case image)
- Ch. V Q4 (p.5)5.1CF steatorrhea → lack of pancreatic enzyme secretionAlso Ch. 6 (fat-soluble vitamins).Practise in 5.1 knowledge check; Missing Arrow (ΔF508 → steatorrhea)
- Ch. V Q5 (p.6)5.1PKU → phenylalanine-restricted dietQ5 and Q6 are one case with two questions.Practise in 5.1 knowledge check
- Ch. V Q6 (p.7)5.1PKU → accumulation of unmetabolized substrateSecond question on the Q5 patient.Practise in 5.1 knowledge check
- Ch. V Q7 (p.8)5.3Myelomeningocele → folic acid5.6 (AFP); Ch. 6 (folate).Practise in 5.3 knowledge check
- Ch. V Q8 (p.9)5.2Klinefelter Barr body → cytosine methylation of an inactivated XThe file offers methylation of the maternal (C) and paternal (E) sex chromosome. X inactivation is random, so either can form the Barr body; C is the better choice because every 47,XXY male has at least one maternal X and about half have two (overall ~¾ of inactive Xs are maternal). The practice item asks for the mechanism.Practise in 5.2 knowledge check
- Ch. V Q9 (p.10)5.2Down syndrome (mother 42) → nondisjunctionPractise in 5.2 knowledge check; One Fact Changes (maternal age)
- Ch. V Q10 (p.11)5.3Angelman without deletion → uniparental disomy 15 (paternal)A routine karyotype cannot reliably exclude a ~5 Mb 15q11–q13 deletion; methylation testing detects deletion and UPD alike.Practise in 5.3 knowledge check; Pedigree Lab (parent of origin, child 4)
- Ch. V Q11 (p.12)5.1Myotonic dystrophy, son worse than father → anticipationLarge (congenital) DM1 expansions are usually maternal; paternal transmission, as here, also expands.Practise in 5.1 knowledge check
- Ch. V Q12 (p.13, pedigree)5.1Color vision deficiency pedigree → X-linked recessivePractise in 5.1 knowledge check (pedigree redrawn)
- Sim. Q28 (p.11)5.2Down features + double bubble + 46 chromosomes → translocationPractise in 5.2 knowledge check (with the double-bubble image); Pedigree Lab (46-chromosome Down)
- Sim. Q29 (p.11)5.2Turner syndrome (webbed neck, delayed leg pulses) → ovarian dysgenesisPractise in 5.2 knowledge check; One Fact Changes (hidden Y)
- Sim. Q30 (p.11–12)5.2Klinefelter syndrome → breast cancer riskCh. 7 (germ-cell and breast tumors).Choices on the page: prostate cancer, breast cancer, aortic dissection, acute leukemia. The lecture's list (breast cancer, autoimmune disease, osteoporosis) leaves breast cancer as the only listed choice.Practise in 5.2 knowledge check
- Sim. Q35 (p.15)5.3Fragile X → CGG repeat expansion on XPractise in 5.3 knowledge check; Missing Arrow (CGG → FMRP)
- Sim. Q36 (p.15)5.3Prader–Willi → loss of the paternal chromosome 15 contributionThe keyed option reads “mutation of paternal chromosome 15”; in practice the paternal region is deleted (~70%) or absent through maternal UPD (~25%).Practise in 5.3 knowledge check; Almost Twins (PWS vs AS)
- L5 p.3–4 (mutation types)5.1In-frame deletion vs frameshift (CFTR ΔF508)The slide lists ΔF508 as a frameshift; it is in-frame.Practise in 5.1 knowledge check
- L5 p.5–6 (pedigrees)5.12/3 carrier risk for a healthy siblingPractise in 5.1 knowledge check; Pedigree Lab
- L5 p.5–6, 21 (AD, AR, XLR, XLD, mitochondrial pedigrees)5.1Reading inheritance patternsPractise in Pedigree Lab (five pedigrees)
- L5 p.8 (meiosis diagram)5.2Meiosis I vs II nondisjunctionPractise in 5.2 knowledge check
- L5 p.7, 9 (Robertsonian karyotype)5.2Balanced Robertsonian carrierPractise in 5.2 knowledge check (karyotype figure)
- L5 p.14–155.2Turner with Y mosaicism → gonadectomyPractise in 5.2 knowledge check
- L5 p.195.3Premutation vs full mutationPractise in 5.3 knowledge check
- L5 p.21–225.3Mitochondrial pedigreePractise in 5.3 knowledge check (pedigree figure)
- L5 p.235.3Prader–Willi vs Angelman by parent of originPractise in Pedigree Lab (parent of origin, six children)
- L5 p.245.4Androgen insensitivityPractise in 5.4 knowledge check
- L5 p.245.45α-reductase deficiencyPractise in 5.4 knowledge check; Almost Twins
- L5 p.245.421-hydroxylase deficiencyPractise in 5.4 knowledge check
- L5 p.285.4Malformation, deformation, disruptionPractise in 5.4 knowledge check
- L5 p.26–27 (table and images)5.5Congenital CMV (image)Practise in 5.5 knowledge check (CT image)
- L5 p.29–30 (Table 6-4)5.5ACE inhibitor fetopathy and the teratogen tablePractise in 5.5 knowledge check
- L5 p.32–335.6RDS and antenatal steroidsPractise in 5.6 knowledge check
- L5 p.105.6Down syndrome marker patternPractise in 5.6 knowledge check
- L5 p.345.6Karyotype vs microarray for a balanced carrierPractise in 5.6 knowledge check
- L5 p.36–375.6Progeria (LMNA/progerin)The slide calls progerin a component of the nuclear “laminin”; it is the mutant form of lamin A.Practise in 5.6 knowledge check
- Original (built on Sim. Q28)5.2Finding the carrier parent and recurrence after translocation Down syndromePractise in Pedigree Lab: 46-chromosome Down
- Original chapter synthesis5.2Recurrence risk follows the mechanismPractise in Chapter review · synthesis case
- Original5.3Trisomy rescue → maternal UPD → Prader–WilliPractise in Chapter review
- Original5.222q11.2 deletion: FISH or microarrayCh. 3 immunodeficiency.Practise in Chapter review
- Original5.4Anti-Ro/La → congenital heart blockCh. 3 autoimmunity.Practise in 5.4 knowledge check
- Original5.3LHON: mitochondrial, not X-linkedPractise in Chapter review
- Original5.1Germline + somatic hits in retinoblastomaCh. 7 epidemiology and genetics.Practise in Chapter review
Source page map
Which lecture pages feed each section. Page numbers are PDF pages of the supplied files.
- 5.1Germline vs somatic mutationsL5 p.2
- 5.1Point, frameshift and repeat mutationsL5 p.3–4
- 5.1Trinucleotide repeat tableL5 p.3
- 5.1AR, AD, XLR, XLD pedigrees and examplesL5 p.5–6
- 5.2Nondisjunction, mosaicism, translocation, deletionL5 p.7–9
- 5.2Down syndromeL5 p.10–12
- 5.2Edwards and Patau syndromesL5 p.13
- 5.2Turner syndromeL5 p.14–15
- 5.2Klinefelter and XYYL5 p.16–18
- 5.3Fragile X syndromeL5 p.19
- 5.3Multifactorial inheritance, NTDsL5 p.20
- 5.3Mitochondrial disordersL5 p.21–22
- 5.3Genomic imprintingL5 p.23
- 5.4Disorders of sex differentiationL5 p.24
- 5.4Maternal factorsL5 p.25
- 5.4Errors in morphogenesisL5 p.28
- 5.5Congenital infectionsL5 p.26–27
- 5.5Teratogen tableL5 p.29–30
- 5.5Fetal alcohol syndrome; neonatal abstinenceL5 p.31
- 5.6Perinatal disorders, NRDSL5 p.32–33
- 5.6Screening and diagnosisL5 p.10, 34–35
- 5.6Aging and progeriaL5 p.36–37
- 5.1–5.6Case questions Q1–Q12 (one per page)Ch. V cases p.2–13
- 5.2–5.3Simulation Q28, Q29, Q30, Q35, Q36Midterm sim. p.11–12, 15
Sources and notes
Sources
- L5Lesson 5 Genetic disorder.pdf — Genetic and developmental disorders (38 pages)
- Ch. V casesCases chapter V.pdf (14 pages)
- Midterm sim.Cases for simulation of midterm examination on pathology.pdf (16 pages)Mixed midterm simulation, questions numbered as in the file.
- SyllabusSyllabus 1 (1).pdf — Pathology course syllabus (2 pages)Defines the midterm scope (Chapters 1–7).
- Ref.Standard references used to verify mechanismsRobbins & Kumar Basic Pathology; Abbas Cellular and Molecular Immunology; Guyton & Hall Medical Physiology; standard toxicology texts.
Course PDFs are not served by this site. Page numbers refer to the supplied files so you can verify claims. Images labelled “Lecture image” are cropped from those files; “Teaching schematic” marks original drawings.
Source notes: where the sources differ or are ambiguous
- CFTR ΔF508. Source: listed as a frameshift; CFTR “degraded in the Golgi apparatus”. Taught here: A 3-base, in-frame deletion (Phe508 lost); the misfolded protein is retained in the ER and degraded by the proteasome. L5 p.3
- Translocation Down syndrome. Source: a 14;21 Robertsonian translocation “causes a milder form of Down syndrome”. Taught here: Three full doses of 21q give the same phenotype as free trisomy 21; mosaicism can be milder. L5 p.7
- Turner karyotypes and tumors. Source: mosaicism is “the most common cause”; gonadoblastoma “benign”; streak gonads at “high risk for ovarian dysgerminoma”. Taught here: 45,X is the most common single karyotype (~half). Gonadoblastoma is an in situ germ-cell lesion that can progress to dysgerminoma, and the risk is confined to Y-containing karyotypes (→ gonadectomy). L5 p.14
- Klinefelter details. Source: micropenis from low fetal testosterone; “testosterone does not interact with receptors with the longest CAG repeats”; nondisjunction “in meiosis I”. Taught here: Penis usually normal or slightly small (small firm testes are constant); longer AR CAG tracts reduce receptor activity and worsen hypoandrogenism; the extra X is paternal (MI) in about half and maternal (MI or MII) in the rest. L5 p.16
- XYY behavior. Source: “associated with aggressive (sometimes criminal) behavior”, prison prevalence 1 in 30. Taught here: Based on 1960s surveys; later studies show learning, attention and social difficulties but no meaningful link to violence. L5 p.18
- Fragile X ranges and pattern. Source: premutation 50–200; listed as X-linked dominant. Taught here: Standard ranges: 45–54 intermediate, 55–200 premutation, > 200 full. Fragile X is X-linked with reduced penetrance in females. L5 p.6, 19
- Progeria. Source: “mutation in the structure of progerin, a component of the nuclear laminin”. Taught here: A de novo LMNA point change (silent at its codon) activates a cryptic splice site; the product, progerin, is a truncated, permanently farnesylated lamin A of the nuclear lamina. L5 p.37
- Teratogen table. Source: “progesterone” virilizes; tobacco “does not produce congenital malformations”; aspirin causes clefts and septal defects; warfarin acts by “hemorrhages into developing organs”. Taught here: Androgenic synthetic progestins virilize, not natural progesterone. Tobacco mainly restricts growth, with a modest rise in clefts. NSAID risk is mainly late (ductus constriction, oligohydramnios). Warfarin embryopathy (weeks 6–9) comes from blocking vitamin K–dependent bone proteins; hemorrhage explains later CNS damage. L5 p.29–30
- Toxoplasma calcification. Source: “CNS calcification (basal ganglia)”. Taught here: Diffuse, scattered parenchymal calcification (which may include the basal ganglia), contrasted with CMV's periventricular pattern. L5 p.26
- Invasive testing. Source: “Ultrasound guided amniocentesis with chorionic villous sampling”. Taught here: Separate procedures: CVS at 10–13 weeks, amniocentesis at about 15–20 weeks. L5 p.10
- DSD terminology. Source: true hermaphrodite, male and female pseudohermaphrodite; AIS develops “gynecomastia”. Taught here: Ovotesticular DSD, 46,XY DSD, 46,XX DSD. In AIS breast development comes from aromatized testosterone in a phenotypic female. L5 p.24
- Maternal hypothyroidism. Source: newborn “may develop cretinism”. Taught here: Congenital hypothyroidism is mostly fetal thyroid dysgenesis or iodine deficiency; maternal hypothyroxinemia early in pregnancy impairs neurodevelopment. L5 p.25
- Case Q8 (Barr body). Source: options split methylation into a maternal (C) and paternal (E) sex chromosome. Taught here: Inactivation is random; C is the better answer because every 47,XXY male carries at least one maternal X (about ¾ of inactive Xs are maternal). The practice item tests the mechanism. Ch. V cases p.9
- Case Q10 (Angelman). Source: “46,XY karyotype without chromosomal deletions” implies no deletion. Taught here: A ~5 Mb 15q11–q13 deletion is near the limit of a routine karyotype; methylation testing, FISH or microarray excludes it. Ch. V cases p.11
- Case Q2 option. Source: “Inhibin B” among the markers. Taught here: The Down screening marker is inhibin A; inhibin B is a gonadal marker. Distractor only. Ch. V cases p.3
- Down syndrome in a mother. Source: “A female with Down syndrome has a 50% risk of having children with Down syndrome.” Taught here: The theoretical figure; observed risk is somewhat lower because trisomic conceptuses are often lost. L5 p.10
Brief in the sources, expanded here as supporting context
- Splice-site mutations, anticipation mechanics and the 2/3 carrier calculation are not spelled out in the lecture; 5.1 teaches them from standard references (the repeat table and case Q11 anchor them).
- Penetrance, expressivity and pleiotropy appear only as a slide heading; definitions and examples are supporting context.
- CF steatorrhea, PKU and maternal PKU come from the case file (Q4–Q6) and the syllabus line “selected inborn errors of metabolism”.
- Meiosis I vs II is a diagram without text; the marker logic is added.
- Barr bodies and X inactivation come from case Q8 and the XLR slide (skewed inactivation).
- 22q11.2 deletion is not in the lecture; it is added for the Chapter 3 bridge.
- Critical periods (beyond “malformation 3–8 weeks”), Zika and parvovirus B19, caudal regression, neonatal hypoglycemia and Graves disease are added as supporting context.
- RDS details (L/S ratio, antenatal steroids), NEC, IVH and SIDS are one line each in the lecture; mechanisms are added.
- Chromosomal microarray, methylation testing and sequencing are added to the lecture's karyotype, PCR and FISH.
- Werner syndrome and telomere biology are added; the progeria slide mentions only telomerase.
- Noonan syndrome is not in the lecture, so Turner is compared with other conditions instead.