This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Suggested Reading
Chromosomal Disorders
The Metabolic and Molecular Basis of Inherited Disease/editors, Charles R. Scriver et al., consulting editors, John B. Stanbury, James B. Wyngaarden, Donald G. Fredrickson. 7th ed. New York: McGraw-Hill, Health Professions Division, 1995.
Emery and Rimoin’s Principles and Practice of Medical Genetics/edited by David L. Rimoin, J. Michael Connor, Reed E. Pyeritz; 3rd ed. New York: Churchill Livingstone, 1997.
McKusick VA, Ed: Mendelian Inheritance in Man, Eleventh Edition. Baltimore and London: Johns Hopkins University Press; 1994.
Buyse ML, ed., Birth Defects Encyclopedia, Oxford, England: Blackwell Scientific Publications; 1990.
Griffin, DK. The incidence, origin, and etiology of aneuploidy.Int Rev Cyt. 1996; 167: 263–96.
Cohen, MM Jr., Syndromology: an updated conceptual overview. V. Aspects of aneuploidy.Int J Oral Maxillofac Surg. 1989; 18: 333–8.
Donnenfeld, AE., Mennuti, MT. Sonographic findings in fetuses with common chromosome abnormalities.Clin Obstet Gynecol. 1988; 31: 80–96.
Saitoh, S. Buiting, K. Cassidy, SB. et al. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.Am J Med Genet. 1997; 68: 195–206.
>Malcolm, S. Microdeletion and microduplication syndromes.Prenat Diagn. 1996; 16: 1213–9.
Budarf, ML. Emanuel, BS. Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders?Hum Mol Genet. 1997; 6: 1657–65.
Sarasin, A. Stary, A. Human cancer and DNA repair-deficient diseases.Cancer Detect Prey. 1997; 21: 406–11.
German, J. The chromosome-breakage syndromes: rare disorders that provide models for studying somatic mutation.Birth Defects: Original Article Series. 1990; 26: 85–111.
Single Gene Disorders
The Metabolic and Molecular Basis of Inherited Disease/editors, Charles R. Scriver et. al., consulting editors, John B. Stanbury, James B. Wyngaarden, Donald G. Fredrickson. 7th ed. New York: McGraw-Hill, Health Professions Division; 1995.
Emery and Rimoin’s Principles and Practice of Medical Genetics/edited by David L. Rimoin, J. Michael Connor, Reed E. Pyeritz 3rd ed. New York: Churchill Livingstone; 1997.
McKusick, VA, ed., Mendelian Inheritance in Man, Eleventh Edition; Baltimore and London: Johns Hopkins University Press; 1994
Buyse, ML, ed., Birth Defects Encyclopedia, Oxford, England: Blackwell Scientific Publications; 1990.
Mitas, M. Trinucleotide repeats associated with human disease.Nucleic Acids Res. 1997; 25: 2245–54.
Warren, ST. The expanding world of trinucleotide repeatsScience. 1996; 271: 1374–5.
Klockgether, T., and Dichgans, J. The genetic basis of hereditary ataxia.Prog Brain Res. 1997; 114: 569–76.
Straub, V., anf Campbell, KP. Muscular dystrophies and the dystrophinglycoprotein complex.Curr Opin Neurol. 1997; 10: 168–75.
Horton, WA. Fibroblast growth factor receptor 3 and the human chondrodysplasias.Curr Opin Pediatr. 1997; 9: 437–42.
Tosi, LL. Osteogenesis imperfecta.Curr Opin Pediatr. 1997; 9: 94–9.
Kuivaniemi, H., Tromp, G., and Prockop, DJ. Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.Hum Mutat. 1997; 9: 300–15.
Ramirez, F. Fibrillin mutations in Marfan syndrome and related phenotypes.Curr Opini Genet Devel. 1996; 309–15.
De Paepe, A., Devereux, RB,. Dietz, HC., Hennekam, RC., and Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. AmJ Med Genet. 1996; 2: 417–26.
Higgs, DR. The thalassaemia syndromes.Q J Med. 1992; 86:559–64. Old, J. Haemoglobinopathies.Prenat Diagn. 1996; 16: 1181–6.
Higgs, DR. 1990 Mack Forster Prize lecture. The molecular genetics of the alpha globin gene family.Eur J Clin Invest. 1990; 20: 340–7.
Green, PM. Naylor JA. Giannelli F. The hemophilias.Adv Genet. 1995; 32: 99–139.
Anonymous. Correlation between genotype and phenotype in patients with cystic fibrosis. The Cystic Fibrosis Genotype-Phenotype Consortium.N Engl J Med. 1993; 329: 1308–13.
Welsh, MJ., and Smith, AE. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis.Cell. 1993; 73: 1251–4.
Tornita, Y. The molecular genetics of albinism and piebaldism.Arch Dermatol. 1994; 130: 355–8.
Hoogeveen, AT., and Oostra, BA. The fragile X syndrome.J Inherit Metab Dis. 1997; 20: 139–51.
Ponder, BA. Neurofibromatosis: from gene to phenotype.SSemin Cancer Biol. 1992; 3: 115–20.
Roach, ES., Smith, M,. Huttenlocher, P., Bhat, M., Alcorn, D., and Hawley, L. Diagnostic criteria: tuberous sclerosis complex. Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association.J Child Neurol. 1992: 7: 221–4.
Single Gene Disorders
The Metabolic and Molecular Basis of Inherited Disease/editors, Charles R. Scriver et. al., consulting editors, John B. Stanbury, James B. Wyngaarden, Donald G. Fredrickson. 7th ed. New York: McGraw-Hill, Health Professions Division; 1995.
Emery and Rimoin’s Principles and Practice of Medical Genetics/edited by David L. Rimoin, J. Michael Connor, Reed E. Pyeritz; [foreword by Victor A. McKusick] 3rd ed. New York: Churchill Livingstone; 1997.
McKusick, VA, ed., Mendelian Inheritance in Man, Eleventh Edition; Baltimore and London: Johns Hopkins University Press; 1994.
Buyse, ML, ed., Birth Defects Encyclopedia, Oxford, England: Blackwell Scientific Publications; 1990.
Goodman, SI., and Greene, CL. Metabolic disorders of the newborn.Pediatrics in Review. 1994; 15: 359–65.
Seashore, MR., and Rinaldo, P. Metabolic disease of the neonate and young infant.Semin Perinatol. 1993; 17: 318–29.
Lysosomal Storage Diseases
The Metabolic and Molecular Basis of Inherited Disease/editors, Charles R. Scriver et al., consulting editors, John B. Stanbury, James B. Wyngaarden, Donald G. Fredrickson. 7th ed. New York: McGraw-Hill, Health Professions Division; 1995.
Emery and Rimoin’s Principles and Practice of Medical Genetics/edited by David L. Rimoin, J. Michael Connor, Reed E. Pyeritz; 3rd ed. New York: Churchill Livingstone; 1997.
McKucick, VA, ed., Mendelian Inheritance in Man, Eleventh Edition; Baltimore and London: Johns Hopkins University Press; 1994.
Buyse, ML, ed., Birth Defects Encyclopedia Baltimore and London: Blackwell Scientific Publications; 1990.
Wraith, JE. The mucopolysaccharidoses: a clinical review and guide to management.Arch Dis Child. 1995; 72: 263–7.
Agamanolis, DP. The pathology of lysosomal storage diseases.Patholo Ann. 1995; 30: 247–85.
Familial Cancer Syndromes
Lindor, N, Greene, MH. Family Cancer Syndromes.J Natl Cancer Inst. 1998; 90: 1039–1071.
The Metabolic and Molecular Basis of Inherited Disease/editors, Charles R. Scriver et. al., consulting editors, John B. Stanbury, James B. Wyngaarden, Donald G. Fredrickson. 7th ed. New York: McGraw-Hill, Health Professions Division; 1995.
Emery and Rimoin’s Principles and Practice of Medical Genetics/edited by David L. Rimoin, J. Michael Connor, Reed E. Pyeritz; 3rd ed. New York: Churchill Livingstone; 1997.
McKucick, VA, ed., Mendelian Inheritance in Man, Eleventh Edition; Baltimore and London: Johns Hopkins University Press; 1994.
Buyse, ML, ed., Birth Defects Encyclopedia, Oxford, England: Blackwell Scientific Publications; 1990.
Vineis, P. Ethical issues in genetic screening for cancer.Ann Oncol. 1997; 8: 945–9.
Schifeling, DJ, Horton, J,. and Tafelski, TJ. Common cancers-genetics, origin, prevention, screening: Parts I and II.Dis Mon. 1997; 43: 681–742.
Fearon, ER. Human cancer syndromes: clues to the origin and nature of cancer.Science. 1997; 278: 1043–50.
Foulkes, WD. A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome.QJM. 1995; 88: 853–63.
Shanley, S, Ratcliffe, J, Hockey, A, et al. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals.Am J Med Genet. 1994; 50: 282–90.
Greene, MH. Genetics of Breast Cancer; a review.Mayo Clinic Proc. 1997; 72: 54–65.
Hoskins, KF, Stopfer, JE, Calzone, KA, et al. Assessment and counseling for women with a family history of breast cancer. A guide for clinicians.JAMA. 1995; 273: 577–85.
Burke, W, Daly, M, Garber, J, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCAI and BRCA2. Cancer Genetics Studies ConsortiumJAMA. 1997; 277: 997–1003.
Burke, W, Petersen, G, Lynch, P, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium.JAMA. 1997; 277: 915–9.
Lynch, HT, Lemon, SJ, Karr, B, et al. Etiology, natural history, management and molecular genetics of hereditary nonpolyposis colorectal cancer (Lynch syndromes): genetic counseling implications.Cancer Epidemiology,Biomarkers&Prevention. 1997; 6: 987–91.
Liaw, D, Marsh, DJ, Li, J, et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.Nat Genet. 1997; 16: 64–7.
Li, FP, Garber, JE, Friend, SH, et al. Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals.J Natl Cancer Inst. 1995; 84: 1156–60.
Hassan, HM, Hossein, G, Sundeep, K., Haitham, AS, Lindor, NM, and Thibodeau, SN. Genetic Testing in Medullary Thyroid Carcinoma Syndromes: Mutation Types and Clinical Significance.Mayo Clinic Proc. 1997; 72: 430–436.
Tomlinson, IP, and Houlston, RS. Peutz-Jeghers syndrome.J Med Genet. 1997; 34: 1007–11.
Schubert, EL, Hansen, MF, and Strong, LC. The retinoblastoma gene and its significance.Ann Med. 1994; 26: 177–84.
Decker, HJ, Weidt, EJ, and Brieger, J. The von Hippel-Lindau tumor suppressor gene. A rare and intriguing disease opening new insight into basic mechanisms of carcinogenesis.Cancer Genet Cytogenet. 1997; 93: 74–83.
Beckwith, JB. New developments in the pathology of Wilms tumor.Cancer Invest. 1997; 15: 153–62.
Mitochondrial Disorders
The Metabolic and Molecular Basis of Inherited Disease/editors, Charles R. Scriver et. al., consulting editors, John B. Stanbury, James B. Wyngaarden, Donald G. Fredrickson. 7th ed. New York: McGraw-Hill, Health Professions Division; 1995.
Emery and Rimoin’s Principles and Practice of Medical Genetics/edited by David L. Rimoin, J. Michael Connor, Reed E. Pyeritz; [foreword by Victor A. McKucick] 3rd ed. New York: Churchill Livingstone; 1997.
Johns, DR. Mitochondrial DNA and Disease.The N Engl J Med. 1995; 333: 638–644.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2002 Springer Science+Business Media New York
About this chapter
Cite this chapter
Kruisselbrink, T.M., Lindor, N.M., O’Brien, J. (2002). Human Genetic Disorders. In: Cheng, L., Bostwick, D.G. (eds) Essentials of Anatomic Pathology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-162-6_2
Download citation
DOI: https://doi.org/10.1007/978-1-59259-162-6_2
Publisher Name: Humana Press, Totowa, NJ
Print ISBN: 978-1-58829-118-9
Online ISBN: 978-1-59259-162-6
eBook Packages: Springer Book Archive