Deletion of chromosome 11(p11p13) in a patient with Beckwith-Wiedemann syndrome - PubMed (original) (raw)
Case Reports
Deletion of chromosome 11(p11p13) in a patient with Beckwith-Wiedemann syndrome
S M Schmutz. Clin Genet. 1986 Sep.
Abstract
Four cases of duplication of a segment of 11p have been reported in patients with Beckwith-Wiedemann syndrome (Waziri et al. 1983, Turleau et al. 1984). We describe a patient with Beckwith-Wiedemann syndrome who has a deletion of chromosome 11(p11p13) and suggest involvement of this chromosomal region in both the duplicated and deleted states such as occurs in Prader-Willi syndrome.
Similar articles
- 11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.
Jurkiewicz D, Kugaudo M, Tańska A, Wawrzkiewicz-Witkowska A, Tomaszewska A, Kucharczyk M, Cieślikowska A, Ciara E, Krajewska-Walasek M. Jurkiewicz D, et al. Pediatr Int. 2015 Jun;57(3):486-91. doi: 10.1111/ped.12611. Epub 2015 May 27. Pediatr Int. 2015. PMID: 26012727 - Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.
Delicado A, Lapunzina P, Palomares M, Molina MA, Galán E, López Pajares I. Delicado A, et al. Eur J Med Genet. 2005 Apr-Jun;48(2):159-66. doi: 10.1016/j.ejmg.2005.01.017. Epub 2005 Mar 2. Eur J Med Genet. 2005. PMID: 16053907 - Molecular characterization of Beckwith-Wiedemann syndrome (BWS) patients with partial duplication of chromosome 11p excludes the gene MYOD1 from the BWS region.
Weksberg R, Glaves M, Teshima I, Waziri M, Patil S, Williams BR. Weksberg R, et al. Genomics. 1990 Dec;8(4):693-8. doi: 10.1016/0888-7543(90)90256-t. Genomics. 1990. PMID: 2276740 - Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature.
Brown KW, Gardner A, Williams JC, Mott MG, McDermott A, Maitland NJ. Brown KW, et al. Cancer Genet Cytogenet. 1992 Jan;58(1):66-70. doi: 10.1016/0165-4608(92)90136-v. Cancer Genet Cytogenet. 1992. PMID: 1728953 Review. - Molecular findings in Beckwith-Wiedemann syndrome.
Choufani S, Shuman C, Weksberg R. Choufani S, et al. Am J Med Genet C Semin Med Genet. 2013 May;163C(2):131-40. doi: 10.1002/ajmg.c.31363. Epub 2013 Apr 16. Am J Med Genet C Semin Med Genet. 2013. PMID: 23592339 Review.
Cited by
- Overgrowth Syndrome.
Li Y, Donnelly CG, Rivera RM. Li Y, et al. Vet Clin North Am Food Anim Pract. 2019 Jul;35(2):265-276. doi: 10.1016/j.cvfa.2019.02.007. Vet Clin North Am Food Anim Pract. 2019. PMID: 31103180 Free PMC article. Review. - Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.
Slavotinek A, Gaunt L, Donnai D. Slavotinek A, et al. J Med Genet. 1997 Oct;34(10):819-26. doi: 10.1136/jmg.34.10.819. J Med Genet. 1997. PMID: 9350814 Free PMC article. Review. - Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
Tommerup N. Tommerup N. J Med Genet. 1993 Sep;30(9):713-27. doi: 10.1136/jmg.30.9.713. J Med Genet. 1993. PMID: 8411066 Free PMC article. Review. No abstract available. - Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5).
Tommerup N, Brandt CA, Pedersen S, Bolund L, Kamper J. Tommerup N, et al. J Med Genet. 1993 Nov;30(11):958-61. doi: 10.1136/jmg.30.11.958. J Med Genet. 1993. PMID: 8301654 Free PMC article. - Familial mental retardation associated with balanced chromosome rearrangement rcp t(8;11)(q24.3;p15.1).
Sato H, Takaya K, Nihira S, Fujita H. Sato H, et al. J Med Genet. 1989 Oct;26(10):642-4. doi: 10.1136/jmg.26.10.642. J Med Genet. 1989. PMID: 2585460 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources