[1]
Latos-Bieleńska A. (red.) i Zespół ds. PRWWR: Polski Rejestr Wrodzonych
Wad Rozwojowych. OWN, Poznań 1998.
[2]
McLean S.D.: Congenital Anomalies. [in]: Neonatology. Pathophysiology
and managment of the newborn. Avery G.B., Fletcher M.A., MacDonald
M.G. (ed.), wyd. V, Lippincott Williams & Wilkins, 2001; 839-858.
[3]
Jacobs P.A., Browne C., Gregson N. et al.: Estimates of the frequency
of chromosome abnormalities detectable in unselected newborns using
moderate levels of banding. J Med Genet 1992 Feb; 29(2): 103-108.
[4]
Mc Neil N., Ried T.: Novel molecular cytogenetic techniques for
identifying complex chromosomal rearrangements: technology and
applications in molecular medicine. Exp Rev Mol Med 2000; 8: 3-16.
[5]
Stankiewicz P., Lupski J.R.: The Genomic Basis of Disease, Mechanisms
and Assays for Genomic Disorders. Genome Dyn 2006; 1: 1-16.
[6]
Lupski J.R., Stankiewicz P.: Genomic disorders: molecular mechanisms for
rearrangements and conveyed phenotypes. PLoS Genet 2005; 1: 6, 49.
[7]
Spodar K., Gutkowska A., Gajdulewicz M. et al.: Dziecko z zespołem
Williamsa - wyzwanie dla pediatry: jak postawić trafne rozpoznanie I
właściwie opiekować się pacjentem? Standardy Med 2006; 3: 420-
429.
[8]
Torniero C., Dalla Bernardina B., Novara F. et al.: Dysmorphic features,
simplified gyral pattern and 7q11.23 duplication reciprocal to the
Williams-Beuren deletion. Eur J Hum Genet 2008; 16: 8, 880-887.
[9]
Inoue K., Lupski J.R.: Molecular mechanisms for genomic disorders. Ann
Rev Genomics Hum Genet 2002; 3: 199-242.
[10]
Somerville M.J., Mervis C.B., Young E.J. et al.: Severe expressivelanguage
delay related to duplication of the Williams-Beuren locus. N
Engl J Med 2005; 353: 16, 1694-1701.
[11]
Van der Aa N., Rooms L., Vandeweyer G. et al.: Fourteen new cases
contribute to the characterization of the 7q11.23 microduplication
syndrome. Eur J Med Genet 2009; [Epub ahead of print].
[12]
Berg J.S., Brunetti-Pierri N., Peters S.U. et al.: Speech delay and autism
spectrum behaviors are frequently associated with duplication of the
7q11.23 Williams-Beuren syndrome region. Genet Med 2007; 9: 7,
427-441.
[13]
Depienne C., Heron D., Betancur C. et al.: Autism, language delay and
mental retardation in a patient with 7q11 duplication. J Med Genet 2007;
44: 7, 452-458.
[14]
Osborne L.R., Mervis C.B.: Rearrangements of the Williams-Beuren
syndrome locus: molecular basis and implications for speech and
language development. Expert Rev Mol Med 2007; 9: 15, 1-16.
[15]
Kozłowska J., Łaczmańska I.: Badania cytogenetyczne i molekularne
wykorzystywane w diagnostyce chorób uwarunkowanych genetycznie.
Diag Lab 2008; 44: 3, 379.