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GeneReviews—www.geneclinics.org
Online Mendelian Inheritance in Man (OMIM)—www.ncbi.nlm.nih.gov
Chromosomal Disorders
Charles R. Scriver et al. eds. In: The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001.
David L. Rimoin, J. Michael Connor, Reed E. Pyeritz, A.E.H. Emery eds. In: Emery and Rimoin’s Principles and Practice of Medical Genetics. 4th ed. New York: Churchill Livingstone; 2002.
Gardner RJ, Sutherland G. Chromosome Abnormalities and Genetic Counseling. New York: Oxford University Press; 2004.
American College of Obstetricians and Gynecologists Committee on Practice Bulletins—Obstetrics. ACOG Practice Bulletin-Clinical Management Guidelines for Obstetrician-Gynecologists. Prenatal diagnosis of fetal chromosomal abnormalities. Obstet Gynecol 2001; 97(5 Pt 1): Suppl 1–12.
De Decker HP, Lawrenson JB. The 22q11.2 deletion: from diversity to a single-gene theory. Genet Med. 2001;3:2–5
Duker NJ. Chromosome breakage syndromes and cancer. Am J Med Genet. 2002;115:125–129.
Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet. 2001;2:446–457.
Petersen MB, Mikkelsen M. Nondisjunction in trisomy 21: origin and mechanisms. Cytogenet Cell Genet. 2000;91:199–203.
Vogels A, Fryns JP. The Prader-Willi syndrome and the Angelman syndrome. Genetic Counseling 2002;13:385–396.
Shapira SK. An update on chromosome deletion and microdeletion syndromes. Curr Opin Pediatr. 1998;10:622–627.
Single-Gene Disorders
Charles R. Scriver et al. eds. In: The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001.
David L. Rimoin, J. Michael Connor, Reed E. Pyeritz, AEH. Emery eds. In: Emery and Rimoin’s Principles and Practice of Medical Genetics. 4th ed. New York: Churchill Livingstone; 2002.
Anonymous. Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis. Arch Intern Med. 1999;159:1529–1539.
Cummings CJ, Zoghbi HY. Trinucleotide repeats: mechanisms and pathophysiology. Ann Rev Genomics Hum Genet. 2000;1:281–328.
Dalkilic I, Kunkel LM. Muscular dystrophies: genes to pathogenesis. Curr Opin Genet Development. 2003;13:231–238.
Evidente VG. Gwinn-Hardy KA. Caviness JN. Gilman S. Hereditary ataxias. Mayo Clinic Proc 2000;75:475–490.
Old JM. Screening and genetic diagnosis of haemoglobin disorders. Blood Rev. 2003;17:43–45.
Ogino S, Wilson RB. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet. 2002;111:477–500.
Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet 2004;363(9418):1377–1385.
Robinson PN, Booms P, Katzke S, et al. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutation. 2002;20:153–161.
Saifi GM, Szigeti K, Snipes GJ, et al. Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies. J Invest Med. 2003;51:261–268.
Schrier SL. Pathophysiology of thalassemia. Curr Opin Hematoy. 2002;9:123–126.
Wenstrom KD. Fragile X and other trinucleotide repeat diseases. Obstet Gynecol Clin N Am. 2002;29:367–388.
Wilkie AO, Patey SJ, Kan SH, et al. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. 2002; 112:266–278.
Zatz M, de Paula F, Starling A, et al. The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscular Disorders 2003;13:532–544.
Metabolic Disorders
Charles R. Scriver et al. eds. In: The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001.
David L. Rimoin, J. Michael Connor, Reed E. Pyeritz, AEH. Emery eds. In: Emery and Rimoin’s Principles and Practice of Medical Genetics. 4th ed. New York: Churchill Livingstone; 2002.
Blau N, Duran M, Blaskovics M, Gibson KM. eds. In: Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. 2nd ed. Verlag, Berlin, Heidelberg, New York: Springer; 2003.
Fernandes J, Saudubray JM, van den Berghe G. eds. In: Inborn Metabolic Diseases Diagnosis and Treatment. 3rd ed. Verlag, Berlin, Heidelberg, New York: Springer; 2000.
Fearing MK, Levy HL. Expanded newborn screening using tandem mass spectrometry. Adv Pediatr. 2003;50:81–111.
Lysosomal Storage Diseases
Charles R. Scriver et al. eds. In: The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001.
David L. Rimoin, J. Michael Connor, Reed E. Pyeritz, AEH. eds. In: Emery and Rimoin’s Principles and Practice of Medical Genetics. 4th ed. New York: Churchill Livingstone; 2002.
Grabowski GA, Hopkin RJ. Enzyme therapy for lysosomal storage disease: principles, practice, and prospects. Ann Rev Genomics Hum Genet. 2003;4:403–436.
Familial Cancer Syndromes
Charles R. Scriver et al. eds. In: The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001.
David L. Rimoin, J. Michael Connor, Reed E. Pyeritz, AEH. Emery, eds. In: Emery and Rimoin’s Principles and Practice of Medical Genetics. 4th ed. New York: Churchill Livingstone; 2002.
Alsanea O, Clark OH. Familial thyroid cancer. Curr Opin Oncol. 2001;13:44–51.
Boardman LA. Heritable colorectal cancer syndromes: recognition and preventive management. Gastroenterol Clin N Am. 2002;31:1107–1131.
Classon M, Harlow E. The retinoblastoma tumour suppressor in development and cancer. Nat Rev Cancer. 2002;2:910–917.
Dome JS, Coppes MJ. Recent advances in Wilms’s tumor genetics. Curr Opin Pediatr 2002;14:5–11.
Eng C. PTEN: One gene, many syndromes. Hum Mutat. 2003;22:183–98.
Fleischmann C, Peto J, Cheadle J, et al. Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. Int J Cancer. 2004;109:554–548.
Frank TS, Deffenbaugh AM, Reid JE, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol. 2002;20:1480–1490.
Markey K, Axel L, Ahnen D. Basic concepts for genetic testing in common hereditary colorectal cancer syndromes. Curr Gastroenterol Reports. 2002;4:404–413.
Leggett BA, Young JP, Barker M. Peutz-Jeghers syndrome: genetic screening. Expert Rev Anticancer Ther. 2003;3:518–24.
Robbins DH, Itzkowitz SH. The molecular and genetic basis of colon cancer. Med Clin N Am. 2002;86:1467–1495.
Shanley S, Ratcliffe J, Hockey A, et al. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet. 1994;50:282–290.
Sims KB. Von Hippel-Lindau disease: gene to bedside. Curr Opin Neurol. 2001;14:695–703.
Varley JM. Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat. 2003;21:313–320.
Wooster R, Weber BL. Breast and ovarian cancer. New Engl J Med. 2003;348:2339–2347.
Mitochondrial Disorders
Charles R. Scriver et al. eds. In: The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001.
David L. Rimoin, J. Michael Connor, Reed E. Pyeritz, AEH. Emery, eds. In: Emery and Rimoin’s Principles and Practice of Medical Genetics. 4th ed. New York: Churchill Livingstone; 2002.
Zeviani M, Carelli V. Mitochondrial disorders. Curr Opin Neurol. 2003;16:585–594.
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Kruisselbrink, T.M., Lindor, N.M., O’Brien, J.F. (2006). Human Genetic Disorders. In: Cheng, L., Bostwick, D.G. (eds) Essentials of Anatomic Pathology. Humana Press. https://doi.org/10.1007/978-1-60327-173-8_2
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DOI: https://doi.org/10.1007/978-1-60327-173-8_2
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