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Chromosomes
- 1. vHL 3 Renal Cell carcinoma 3 Cri-du-Chat syn 5 FAP 5 Williams syndrome chr 7 Elfin facies, intellectual disability, hypercalcemia (increased sensistivity to VitD), loquaciousness and extreme friendliness, cardiovascular problems. Cystic fibrosis
- 2. AR, chr 7 Friedreich ataxi aAR - Chr 9 - Frataxin protein -GAA repeat. Impairment in mitochondrial functioning. Posterior column degeneration and loss of sensory cells of DRG (position and vibration sensation loss). Progressive ataxia of all 4 limbs caused by ascending and descending cerebellar dysfunction HCM in >50% causes cardiac arrhythmias and CHF; skeletal deformities. Presents in childhood with kyphoscoliosis. "Staggering gait" frequently falling. Wilms tumor 11
- 3. Wilson dz 13 Prader- Willi and Angelman 15 Marfan Syn 15 ADPKD PKD1 on 16, PKD2 on 4
- 4. Huntington 4 Neurofibromatosis NF1 on 17 (neurofibromin protein) NF2 on 22 (merlin protein) Edwards syn 18 DiGeorge Syn 22q11 Acrocentric chromosomes 13, 14, 15, 21, 22 (robertsonian translocations!) Achondroplasia FGFR-3 on 4p
- 5. Tuberous sclerosis 16 Numerous benign hamartomas, all organs, esp. CNS. + seizure, mental retardation, cutaneous angiofibromas Ehlers-danlos 7 AR or AD- most common form has defect of lysyl hydroxylase - failed cross linking of collagen fibrils Osteogenesis imperfecta 7 X-linked Disorders Be Wise, Fool's GOLD Heeds HOpe Bruton agammaglobulinemia Wiskott-Aldrich Syndrome Fabry Disease G6PD deficiency Ocular albinism Lesch-Nyhan Syndrome Duchenne (and Becker) Muscular Dystrophy Hunter Syndrome Hemophila A &B Ornithine transcarbamylase deficiency
- 6. Neurofibromatosis 1 (gene, inheritance, chromosome) NF1, autosomal Dominant, Chromosome 17 BRCA1 (chromosome, Inheritance, type of gene) Chromosome 17, autosomal Dominant, tumor suppressor Neurofibromatosis 2 (gene, Inheritance, chromosome) NF2, autosomal Dominant, Chromosome 22 Familial Adenomatous Polyposis (gene, inheritance, chromosome) FAP, autosomal Dominant, chromosome 5
- 7. Von Hippel-Lindau (gene, inheritance, chromosome) VHL, autosomal Dominant, chromosome 3 Wilms tumor (gene, inheritance, chromosome) WT1, sporadic, chromosome, chromosome 11) Fragile X (gene, inheritance, chromosome) FMR1, X-linked dominant, chromosome ?
- 8. BRCA 2 (chromosome, Inheritance, type of gene) chromosome 13, autosomal dominant, tumor supressor) BRCA2 , men breasts got cancer on the unlucky day # 13 and on the same unlucky day13 # her baby had retinoblastoma Prader-Willi Syndrome (paternal or maternal deletion of what band on which chromosome) paternal deletion of q12 on chromosome 15 Angelman Syndrome (deletion of what band on which chromosome) maternal deletion of q12 on chromosome 15 Cri-du-chat syndrome micro deletion of short arm of chromosome 5
- 9. O r iginalAlphabet ical von Hippel-Lindau 3 renal cell carcinoma 3 AD polycystic kidney disease (PKD2) 4 achondriplasia 4 Huntington disease 4
- 10. cri-du-chat syndrome (specific arm) 5p- familial adenomatous polyposis 5 hemochromatosis (HFE) 6 Williams syndrome 7q- cystic fibrosis 7
- 11. Friedreich ataxia 8 Wilms tumor 11 sickle cell disease 11 beta-thalassemia 11 Patau syndrome 13
- 12. Wilson disease 13 retinoblastoma 13 BRCA2 13 Prader-Willi syndrome 15 Angelman syndrome 15 Marfan syndrome 15
- 13. AD polycystic kidney disease (PKD1) 16 alpha-thalassemia 16 neurofibromatosis type 1 17 BRCA1 17
- 14. Edwards syndrome 18 Down syndrome 21 neurofibromatosis type 2 22 DiGeorge syndrome (specific locus) 22q11
- 15. velocardiofacial syndrome 22q11 fragile X syndrome X X-linked agammaglobulinemia X Klinefelter syndrome X Turner 45, XO - fertilization problems Normally a defect in sperm gamete
- 16. Downs Trisomy 21 Normally a defect in egg gamete TPMT Chromosome 6 Semi-Dominant Achondroplasia Chromosome 4 Dominant Normally defect in sperm gamete
- 17. Osteogenesis Imperfecta Chromosomes 17 and 7 Mostly dominant De novo mutations Blue schlera Marfan Chromosome 15 Dominant Dominant Negative Ehlers-Danlos Chromosomes 17 and 7 Mostly dominant Locus Heterogeneity
- 18. PKU Chromosome 12 Recessive Musty smell Lesch-Nyhan X Chromosome Recessive De novo mutations OTC Deficiency X Chromosome Recessive De novo mutation in sperm gamete
- 19. Cystinuria Chromosome 2 Mostly recessive Tay-Sachs Chromosome 15 Recessive Cherry red spot Gaucher Chromosome 1 Recessive Splenomegaly
- 20. Duchenne MD X Chromosome Recessive Gower's sign Charcot-Marie-Tooth Chromosome 17 Dominant Gene dosage Retts X Chromosome Dominant
- 21. De novo Hand wringing Fragile X X Chromosome Dominant Hypermethylation, Sherman paradox Huntington's Chromosome 4 Dominant Worse is sperm Box Car Ventricles Retinoblastoma Chromosome 13 Dominant 2 hit hypothesis
- 22. Lynch Syndrome Chromosome 3 Dominant Microsatellite instability Neurofibromatosis Chromosome 17 Dominant Cafe au lait spots, Lisch nodules Beckwith-Wiedemann Chromosome 11 Dominant UDP (sperm) Hypomethylation, Genomic imprinting
- 23. Thalassemia Alpha-Chrome 16 Beta-Chrome 11 Recessive Heterozygotic advantage Hemophelia X Chromosome Recessive Telomere Chromosome X DKC1 gene
- 24. Niemann-Pick Lysosomal storage disorder that presents with splenomegaly Edwards Trisomy18 Prominent occiput, Overlapping fingers Patau Trisomy 13 Microcephaly, Cleft lip and palate, Polydactyly Please allow access to your computer’s microphone to use Voice Recording. Turner 45, XO Normally a defect in sperm gamete
- 25. Downs Trisomy 21 Normally a defect in egg gamete TPMT Chromosome 6 Semi-Dominant Achondroplasia Chromosome 4 Dominant Normally defect in sperm gamete Osteogenesis Imperfecta Chromosomes 17 and 7 Mostly dominant
- 26. De novo mutations Blue schlera Marfan Chromosome 15 Dominant Dominant Negative Ehlers-Danlos Chromosomes 17 and 7 Mostly dominant Locus Heterogeneity PKU Chromosome 12 Recessive Musty smell
- 27. Lesch-Nyhan X Chromosome Recessive De novo mutations OTC Deficiency X Chromosome Recessive De novo mutation in sperm gamete Cystinuria Chromosome 2 Mostly recessive Tay-Sachs
- 28. Chromosome 15 Recessive Cherry red spot Gaucher Chromosome 1 Recessive Splenomegaly Duchenne MD X Chromosome Recessive Gower's sign Charcot-Marie-Tooth
- 29. Chromosome 17 Dominant Gene dosage Retts X Chromosome Dominant De novo Hand wringing Fragile X X Chromosome Dominant Hypermethylation, Sherman paradox Huntington's Chromosome 4 Dominant Worse is sperm Box Car Ventricles
- 30. Retinoblastoma Chromosome 13 Dominant 2 hit hypothesis Lynch Syndrome Chromosome 3 Dominant Microsatellite instability Neurofibromatosis Chromosome 17 Dominant Cafe au lait spots, Lisch nodules
- 31. Beckwith-Wiedemann Chromosome 11 Dominant UDP (sperm) Hypomethylation, Genomic imprinting Thalassemia Alpha-Chrome 16 Beta-Chrome 11 Recessive Heterozygotic advantage Hemophelia X Chromosome Recessive
- 32. Telomere Chromosome X DKC1 gene Niemann-Pick Lysosomal storage disorder that presents with splenomegaly Edwards Trisomy 18 Prominent occiput, Overlapping fingers
- 33. Patau Trisomy 13 Microcephaly, Cleft lip and palate, Polydactyly