<prompt> Which of the following is autosomal recessive?AchondroplasiaDuchenne muscular dystrophyThalassemiaMarfans syndrome  <response>: ANSWER: C ThalassemiaREF: APPENDIX- 78 below for PEDIGREE INHERITANCEIndirect repeat Pathology 2012 Session 2 APPENDIX- 78PEDIGREE INHERITANCEHow to read a pedigree chart?However not a rule, but following scheme solves all the pedigree charts that use to come in PG entrance exams.Check parents of the affectedIf both parents are normal including carriers- recessiveIf any or both the parents are affected- dominantIf dominant, check progenyoffsprings of the affected maleIf affected male affects females only- X linked dominantIf affected male affects males only- Y linkedIf affected male affects both males and females- Autosomal dominantIf affected male do not transmit at all- Mitochondrial inheritanceIf recessive, check all affected If both males and females are affected in the pedigree- Autosomal recessiveIf only males are affected in the pedigree female is affected only in the condition when father is affected and mother is carrier - X linked recessiveFor mitochondrial inheritanceMales are affected but do not transmit at all 0 transmissionFemales are affected and transmit to all the offsprings 100 transmissionNormal maleSiblings brothers and sistersNormal femaleSibship of 4 males and 3 females for economy of spaceNormal matingThree offspring. sex unknownConsanguineousmatingSmall circles represent abortions or miscarriagesProband, index case. propositus maleproposita femaleMonozygotic identical twinsPeople affected by the trait or disorder HeterozygotesDizygotic fraternal or nonidentical twinsSymbol divided to represent up to 4 clinical features of a syndromeZygosity uncertainDeceased SOLUTION:A Autosomal recessiveB X linked recessiveC Autosomal dominantD X linked dominantE Mitochondrial inheritance Autosomal dominantAutosomal recessiveAchondroplasiaAcoustic neuromaAdult polycystic kinneyAcute intermittent porphyriaAngioedema Cl esterase inhibitor defEhler danlos syndrome except type 6Familial hypercholesterolemiaFamilial adenomatosis polyposis colonHereditary spherocytosisHuntingtons choreaIchthyosis vulgarisMarfan s syndromeMalignant hyperthermiaMenieres diseaseMitral valve prolapsedMODYNeurofibromatosis 1 2Osteogenesis imperfectaOtosclerosisPeutz jeghers syndromeRetinoblastomaSpinocerebellar ataxiaTuberous sclerosisVon hippel landau diseaseVon Willebrands disease Type 1 2WPW syndromeYellow blue colour blindnessAlbinismAtaxia telangiectasiaAlfa 1 antitrypsin deficiencyAlkaptonuria PhenylketonuriaCongenital adrenal hyperplasia 21 17 hydroxylasedeficiencyCystinosis Cystinuria Cystic fibrosisEhler danlos syndrome Type 6- MC typeFreidrichs ataxiaFructose 1-6 bisphosphatase deficiencyGauchers syndromeGalactosemiaHomocystemiaHereditary hemochromatosisMucopolysaccharidosis except Fabry Hunter sMaple syrup urine diseaseNiemanns pick syndromeSickle cell diseaseIhallassemiaTay sach diseaseTotal colour blindnessXeroderma pigmentosaVon Willebrands disease Type 3Wilsons diseaseX linked dominantX linked recessiveRette syndromeVitamin D resistant Hypophosphatemic rickets Pseudohypoparathyroidism Hyperammonemia Incontinenta pigmentiDuchenne muscular dystrophy Beckers muscular dystrophy G6PD deficiency Haemophilia A B Hunters syndrome MPS IIFabry diseaseLesch Nyhan syndromeBrutons agammaglobulinemiaWiskott Aldrich syndromeDiabetes insipidusOcular albinismRed green colour blindnessAndrogen insensitivity syndromeFragile X syndromeGonadal dysgenesis XY typeX-linked Severe Combined Immunodeficiency SOD X-linked ichthyosisMitochondrial inheritanceLeber hereditary optic neuropathy Leigh disease Pearson syndromeMERRF- Myoclonic epilepsy ragged red fibres MELAS- Mitochondrial encephalopathy - Lactic acidosis stroke like syndromePolygenic inheritanceCleft palate with or without cleft lipCoronary heart diseaseCongenital heart diseasePyloric stenosisSchizophreniaHypertensionClub footGoutNOTE: 1. All lysosomal storage disorders are autosomal recessive except Fabrys disease Hunters diseaseAlbinism is autosomal recessive while ocular albinism is X linked recessiveFragile X syndrome which was earlier considered to be X linked recessive is now considered to be only X linked, but not recessive, by most of the authors 