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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Chromosome Disorders

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Disease relevance of Chromosome Disorders


High impact information on Chromosome Disorders

  • This deletion map should be useful in identifying Y chromosomal genes, in exploring the origin of chromosomal disorders, and in tracing the evolution of the Y chromosome [5].
  • However, 5 men with chromosomal disorders had a higher mean AR level (41.3 +/- 6.2 fmol/mg protein) than the normal men, and 5 of the remaining infertile men (14.2%) had receptor levels that were less than the minimum value in normal men [6].
  • Eight chromosomal disorders had a high association with epilepsy [7].
  • Are clinical and biological IVF parameters correlated with chromosomal disorders in early life: a multicentric study [8].
  • The possibility of pregnancy must be considered in all patients with Turner syndrome, a relatively common chromosomal disorder [9].

Chemical compound and disease context of Chromosome Disorders


Biological context of Chromosome Disorders


Gene context of Chromosome Disorders

  • However, many of the cardiac defects in the Ts16 mouse do not reflect the heart malformations seen in patients suffering from this chromosomal disorder [15].
  • X-linked recessive and chromosomal disorders presented the most difficulties in comprehension [16].
  • Causes of short stature are: Familial, idiopathic, delay in growth and maturation, chronic systemic illnesses, endocrinopathies, rickets, skeletal dysplasia, chromosomal disorders and emotional deprivation [17].


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  2. Biochemical screening for chromosomal disorders and neural tube defects (NTD): is adjustment of maternal alpha-fetoprotein (AFP) still appropriate in insulin-dependent diabetes mellitus (IDDM)? Sancken, U., Bartels, I. Prenat. Diagn. (2001) [Pubmed]
  3. Coeliac disease in Williams syndrome. Giannotti, A., Tiberio, G., Castro, M., Virgilii, F., Colistro, F., Ferretti, F., Digilio, M.C., Gambarara, M., Dallapiccola, B. J. Med. Genet. (2001) [Pubmed]
  4. Unusual posterior retinal holes associated with high myopia in XYY syndrome. Kremer, I., Feuerman, P.E., Yassur, Y., Lusky, M., Lapidot, M. Annals of ophthalmology. (1990) [Pubmed]
  5. The human Y chromosome: a 43-interval map based on naturally occurring deletions. Vollrath, D., Foote, S., Hilton, A., Brown, L.G., Beer-Romero, P., Bogan, J.S., Page, D.C. Science (1992) [Pubmed]
  6. Variable androgen receptor levels in infertile men. Morrow, A.F., Gyorki, S., Warne, G.L., Burger, H.G., Bangah, M.L., Outch, K.H., Mirovics, A., Baker, H.W. J. Clin. Endocrinol. Metab. (1987) [Pubmed]
  7. Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. Singh, R., Gardner, R.J., Crossland, K.M., Scheffer, I.E., Berkovic, S.F. Epilepsia (2002) [Pubmed]
  8. Are clinical and biological IVF parameters correlated with chromosomal disorders in early life: a multicentric study. Plachot, M., Veiga, A., Montagut, J., de Grouchy, J., Calderon, G., Lepretre, S., Junca, A.M., Santalo, J., Carles, E., Mandelbaum, J. Hum. Reprod. (1988) [Pubmed]
  9. Pregnancy in the Turner syndrome with only 45,X chromosomal constitution. Wray, H.L., Freeman, M.V., Ming, P.M. Fertil. Steril. (1981) [Pubmed]
  10. Mosaicism and phenotype in ring chromosome 20 syndrome. Nishiwaki, T., Hirano, M., Kumazawa, M., Ueno, S. Acta neurologica Scandinavica. (2005) [Pubmed]
  11. Quantitative fluorescent polymerase chain reaction versus cytogenetics: risk-related indication and clinical implication of nondetected chromosomal disorders. Kozlowski, P., Grund, I., Hickmann, G., Stressig, R., Knippel, A.J. Fetal. Diagn. Ther. (2006) [Pubmed]
  12. First-trimester maternal serum alpha-fetoprotein as a marker for fetal chromosomal disorders. Dutch Working Party on Prenatal Diagnosis. Van Lith, J.M. Prenat. Diagn. (1994) [Pubmed]
  13. Alpha-fetoprotein in fetal serum, amniotic fluid, and maternal serum. Van Lith, J.M., Beekhuis, J.R., Van Loon, A.J., Mantingh, A., De Wolf, B.T., Breed, A.S. Prenat. Diagn. (1991) [Pubmed]
  14. ABC of clinical genetics. Chromosomal disorders. I. Kingston, H.M. BMJ (1989) [Pubmed]
  15. Conotruncal anomalies in the trisomy 16 mouse: an immunohistochemical analysis with emphasis on the involvement of the neural crest. Waller, B.R., McQuinn, T., Phelps, A.L., Markwald, R.R., Lo, C.W., Thompson, R.P., Wessels, A. Anat. Rec. (2000) [Pubmed]
  16. Prospective study of genetic counselling. Emery, A.E., Raeburn, J.A., Skinner, R., Holloway, S., Lewis, P. British medical journal. (1979) [Pubmed]
  17. Growth hormone deficiency in children: an approach to a child with short stature. Chowdhury, S., Chatterjee, P. Journal of the Indian Medical Association. (2004) [Pubmed]
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