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

Chromosome Deletion

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Disease relevance of Chromosome Deletion


High impact information on Chromosome Deletion


Biological context of Chromosome Deletion


Anatomical context of Chromosome Deletion


Gene context of Chromosome Deletion

  • Furthermore, we created a loss-of-function mutation in the mouse Lmbr1 gene that causes digit number reduction (oligodactyly) on its own and in trans to a deletion chromosome [13].
  • We constructed a deletion map of partial monosomy 10p patients and narrowed the critical region DGCR2 to about 300 kb [12].
  • 4. Five patients with short stature with SHOX haplo-insufficiency were detected: three had Madelung deformity (inherited Yq;Xp translocation, de novo PAR deletion, and SHOX microdeletion), and two had de novo/inherited Xp partial monosomy [14].
  • In one subclone, which has retained the deletion chromosome but not the homologous normal copy, we have demonstrated the presence of the human ESD gene sequence [15].
  • The enzymatic activity of phosphoribosylglycinamide synthetase (GARS) has been studied in several cases of partial monosomies and full and partial trisomies 21 [16].


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  2. Laparoscopy in endocrine and genetic disorders of the gonads. Minozzi, M., Faggiano, M., Jori, G.P., Lombardi, G. Acta endocrinologica. Supplementum. (1975) [Pubmed]
  3. DiGeorge syndrome and partial monosomy 10p: case report and review. Schuffenhauer, S., Seidel, H., Oechsler, H., Belohradsky, B., Bernsau, U., Murken, J., Meitinger, T. Ann. Genet. (1995) [Pubmed]
  4. Identification of a cluster of X-linked imprinted genes in mice. Raefski, A.S., O'Neill, M.J. Nat. Genet. (2005) [Pubmed]
  5. Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region. Chettouh, Z., Croquette, M.F., Delobel, B., Gilgenkrants, S., Leonard, C., Maunoury, C., Prieur, M., Rethoré, M.O., Sinet, P.M., Chery, M. Am. J. Hum. Genet. (1995) [Pubmed]
  6. Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. Jones, C., Slijepcevic, P., Marsh, S., Baker, E., Langdon, W.Y., Richards, R.I., Tunnacliffe, A. Hum. Mol. Genet. (1994) [Pubmed]
  7. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. Lichtner, P., König, R., Hasegawa, T., Van Esch, H., Meitinger, T., Schuffenhauer, S. J. Med. Genet. (2000) [Pubmed]
  8. Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism. Lai, M.M., Scriven, P.N., Ball, C., Berry, A.C. J. Med. Genet. (1992) [Pubmed]
  9. Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. Zinn, A.R., Tonk, V.S., Chen, Z., Flejter, W.L., Gardner, H.A., Guerra, R., Kushner, H., Schwartz, S., Sybert, V.P., Van Dyke, D.L., Ross, J.L. Am. J. Hum. Genet. (1998) [Pubmed]
  10. Molecular characterization of chromosome 22 deletions in schwannomas. Bijlsma, E.K., Brouwer-Mladin, R., Bosch, D.A., Westerveld, A., Hulsebos, T.J. Genes Chromosomes Cancer (1992) [Pubmed]
  11. High-resolution physical mapping of a 6.7-Mb YAC contig spanning a region critical for the monosomy 21 phenotype in 21q21.3-q22.1. Orti, R., Mégarbane, A., Maunoury, C., Van Broeckhoven, C., Sinet, P.M., Delabar, J.M. Genomics (1997) [Pubmed]
  12. Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p. Lichtner, P., Attié-Bitach, T., Schuffenhauer, S., Henwood, J., Bouvagnet, P., Scambler, P.J., Meitinger, T., Vekemans, M. J. Mol. Med. (2002) [Pubmed]
  13. Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. Clark, R.M., Marker, P.C., Roessler, E., Dutra, A., Schimenti, J.C., Muenke, M., Kingsley, D.M. Genetics (2001) [Pubmed]
  14. SHOX intragenic microsatellite analysis in patients with short stature. Ezquieta, B., Cueva, E., Oliver, A., Gracia, R. Journal of pediatric endocrinology & metabolism : JPEM. (2002) [Pubmed]
  15. Molecular evidence that the esterase-D gene lies proximal to the retinoblastoma susceptibility locus in chromosome region 13q14. Mitchell, C.D., Cowell, J.K. Hum. Genet. (1988) [Pubmed]
  16. Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221. Chadefaux, B., Allard, D., Rethoré, M.O., Raoul, O., Poissonnier, M., Gilgenkrantz, S., Cheruy, C., Jérôme, H. Hum. Genet. (1984) [Pubmed]
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