This is a preview of subscription content, log in via an institution to check access.
Preview
Unable to display preview. Download preview PDF.
Suggested Reading
Online resources
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.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2006 Humana Press Inc.
About this chapter
Cite this chapter
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
Download citation
DOI: https://doi.org/10.1007/978-1-60327-173-8_2
Publisher Name: Humana Press
Print ISBN: 978-1-58829-460-9
Online ISBN: 978-1-60327-173-8
eBook Packages: MedicineMedicine (R0)