Publication Cover
Archives of Andrology
Journal of Reproductive Systems
Volume 45, 2000 - Issue 1
216
Views
3
CrossRef citations to date
0
Altmetric
Research Article

DETECTION OF CHROMOSOME 15 DELETION IN PRADER?WILLI SYNDROME USING FLUORESCENCE IN SITU HYBRIDIZATION

Pages 13-17 | Published online: 09 Jul 2009

References

  • Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillessen-Kaesbach G, Horsthemke B (1992): Molecular diagnosis of the Prader—Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet 90:313–315.
  • Gillessen-Kaesbach G, Gross S, Kaya-Westerloh S, Passarge E, Horsthemke B (1995): DNA methyla-tion based testing of 450 patients suspected of having Prader—Willi syndrome. J Med Genet 32:88–92.
  • Holms VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F (1993): Prader—Willi syndrome: consensus diagnostic criteria. Pediatrics 91:398–402.
  • Hoo J-J, Chao MC, Samuel IP, Morgan AM (1990): Proximal 15q variant as possible pitfall in the cytogenetic diagnosis of Prader—Willi syndrome. Clin Genet 37:161–166.
  • Knoll JHM, Nicholls RD, Magenis RE, Graham Jr JM, Lalande M, Latt SA (1989): Angelman and Prader—Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32:285–290.
  • Ludowese CJ, Thompson KJ, Sekhon GS, Pauli RM (1991): Absence of predictable phenotypic ex-pression in proximal 15q duplications. Clin Genet 40:194–201.
  • Mascari MJ, Gottlieb W, Rogan PK, Butler MG, Waller DA, Armour JAL, Jeffreys AJ, Ladda RL, Nicholls RD (1992): The frequency of uniparental disomy in Prader—Willi syndrome, implications for molecular diagnosis. N Engl J Med 326:1599–1607.
  • Ozcelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A, Francke U (1992): Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader—Willi syndrome critical region. Nat Genet 2:265–269.
  • Prader A, Labhart A, Willi H (1956): Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im Neugeborenenalter. Schweiz Med Wochenschr 86:1260–1261.
  • Robinson WP, Bottani A, Yagang X, Balakrishman J, Binkert F, Machler M, Prader A, Schinzel A (1991): Molecular, cytogenetic, and clinical investigations of Prader—Willi syndrome patients. Am J Hum Genet 49:1219–1234.
  • Rosenbaum KN (1992): Genetics and dysmorphology. In: Clinical Pediatric Urology, 3d ed. Kelalis PP, King LR, Belman AB (Eds). Philadelphia: Saunders, p 244.
  • Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL (1994): Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 8:52–58.
  • Suzuki Y, Sasagawa I, Yazawa H, Tateno T, Nakada T, Saito H, Hiroi M (2000): Localization of the sex-determining region-Y gene in XX males. Arch Androl 44:119–122.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.