Atypical phenotype associated with deletion (15) (pter----q11::q13----qter) - PubMed (original) (raw)
Case Reports
Atypical phenotype associated with deletion (15) (pter----q11::q13----qter)
J F Reynolds et al. Am J Med Genet. 1987 Sep.
Abstract
We report on a 10-year-old boy with an interstitial deletion within the region of bands 15q11----q13. Authors have associated the manifestation of the Prader-Willi syndrome (PWS) with variable deletions involving the bands q11----q13. Our patient had atypical manifestations not usually associated with PWS, ie, normal stature, proportionally sized hands and feet, normal genitalia, and was nonambulatory and severely mentally retarded. This case emphasized the clinical diversity seen in proximal 15q deletions in the region considered to be correlated with the PWS.
Similar articles
- Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15).
Varela MC, Lopes GM, Koiffmann CP. Varela MC, et al. Ann Genet. 2004 Jul-Sep;47(3):267-73. doi: 10.1016/j.anngen.2004.01.003. Ann Genet. 2004. PMID: 15337472 Review. - Unique karyotypes in two patients with Prader-Willi syndrome.
Narahara K, Hiramoto K, Murakami M, Miyake S, Tsuji K, Yokoyama Y, Namba H, Ninomiya S, Murakami R, Seino Y. Narahara K, et al. Am J Med Genet. 1992 Mar 1;42(5):671-7. doi: 10.1002/ajmg.1320420509. Am J Med Genet. 1992. PMID: 1632436 - Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.
Gilhuis HJ, van Ravenswaaij CM, Hamel BJ, Gabreëls FJ. Gilhuis HJ, et al. Eur J Paediatr Neurol. 2000;4(1):39-43. doi: 10.1053/ejpn.1999.0259. Eur J Paediatr Neurol. 2000. PMID: 10701104 Review. - Molecular and clinical overlap of Angelman and Prader-Willi syndrome phenotypes.
Kirkilionis AJ, Chudley AE, Gregory CA, Hamerton JL. Kirkilionis AJ, et al. Am J Med Genet. 1991 Sep 15;40(4):454-9. doi: 10.1002/ajmg.1320400416. Am J Med Genet. 1991. PMID: 1684091 - Deletions of proximal 15q without Prader-Willi syndrome.
Greenberg F, Ledbetter DH. Greenberg F, et al. Am J Med Genet. 1987 Dec;28(4):813-20. doi: 10.1002/ajmg.1320280405. Am J Med Genet. 1987. PMID: 3688019
Cited by
- Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
Jehee FS, de Oliveira VT, Gurgel-Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, de Freitas ML, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R; Baylor-Hopkins Center for Mendelian Genomics; White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann C, Rosenberg C, Carvalho CMB. Jehee FS, et al. Am J Med Genet A. 2017 Sep;173(9):2451-2455. doi: 10.1002/ajmg.a.38315. Epub 2017 Jun 20. Am J Med Genet A. 2017. PMID: 28631899 Free PMC article. - Prader-Willi syndrome: current understanding of cause and diagnosis.
Butler MG. Butler MG. Am J Med Genet. 1990 Mar;35(3):319-32. doi: 10.1002/ajmg.1320350306. Am J Med Genet. 1990. PMID: 2309779 Free PMC article. - Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
Robinson WP, Bottani A, Xie YG, Balakrishman J, Binkert F, Mächler M, Prader A, Schinzel A. Robinson WP, et al. Am J Hum Genet. 1991 Dec;49(6):1219-34. Am J Hum Genet. 1991. PMID: 1684085 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical