An additional case of deletion 17p11.2 - PubMed (original) (raw)

Case Reports

An additional case of deletion 17p11.2

D W Popp et al. Am J Med Genet. 1987 Feb.

No abstract available

Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization.
Juyal RC, Greenberg F, Mengden GA, Lupski JR, Trask BJ, van den Engh G, Lindsay EA, Christy H, Chen KS, Baldini A, et al. Juyal RC, et al. Am J Med Genet. 1995 Sep 11;58(3):286-91. doi: 10.1002/ajmg.1320580317. Am J Med Genet. 1995. PMID: 8533833
A further case of choanal atresia in the deletion (9p) syndrome.
Shashi V, Berry D, Stamper TH, Pettenati M. Shashi V, et al. Am J Med Genet. 1998 Dec 4;80(4):440. Am J Med Genet. 1998. PMID: 9856581 No abstract available.
Neuroblastoma in patients with constitutional chromosomal changes.
Fryns JP. Fryns JP. Genet Couns. 1996;7(1):73. Genet Couns. 1996. PMID: 8652093 No abstract available.
Atrioventricular canal and 8p- syndrome.
Digilio MC, Giannotti A, Marino B, Dallapiccola B. Digilio MC, et al. Am J Med Genet. 1993 Sep 1;47(3):437-8. doi: 10.1002/ajmg.1320470331. Am J Med Genet. 1993. PMID: 8135296 Review. No abstract available.
Monosomy 1p36.
Slavotinek A, Shaffer LG, Shapira SK. Slavotinek A, et al. J Med Genet. 1999 Sep;36(9):657-63. J Med Genet. 1999. PMID: 10507720 Free PMC article. Review.

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR. Greenberg F, et al. Am J Hum Genet. 1991 Dec;49(6):1207-18. Am J Hum Genet. 1991. PMID: 1746552 Free PMC article.