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Items: 5

1.

Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart.

Robert ML, Lopez T, Crolla J, Huang S, Owen C, Burvill-Holmes L, Stumper O, Turnpenny PD.

Clin Dysmorphol. 2007 Oct;16(4):241-6.

PMID:
17786115
2.

Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].

Sauter S, von Beust G, Burfeind P, Weise A, Starke H, Liehr T, Zoll B.

Am J Med Genet A. 2003 Aug 1;120A(4):533-6.

PMID:
12884434
3.

Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene.

Stankiewicz P, Rujner J, Löffler C, Krüger A, Nimmakayalu M, Piłacik B, Krajewska-Walasek M, Gutkowska A, Hansmann I, Giannakudis I.

Am J Med Genet. 2001 Oct 1;103(2):166-71.

PMID:
11568926
4.

Monosomy 20p due to a de novo del(20)(p12.2). Clinical and radiological delineation of the syndrome.

García-Cruz D, Rivera H, Barajas LO, Jiménez-Sáinz M, Nazará Z, Sánchez-Corona J, Durón-Huerta H, García-Ochoa C, Cantú JM.

Ann Genet. 1985;28(4):231-4.

PMID:
3879435
5.

46,XX/46,XX,del(20)(pter-->p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit.

Fryns JP, Kleczkowska A, Decock P, Massa G, van den Berghe H.

Ann Genet. 1992;35(4):234-6.

PMID:
1296522

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