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Items: 4

Select item 17351331.

A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation

I Borg, M Squire, C Menzel, K Stout, D Morgan, L Willatt, P O'Brien, M Ferguson-Smith, H Ropers, N Tommerup, V Kalscheuer, D Sargan

J Med Genet. 2002 Jun; 39(6): 391–399. doi: 10.1136/jmg.39.6.391

PMCID:: PMC1735133

Summary PDF–342K

Select item 17345692.

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

D. Kotzot, M. Martinez, G. Bagci, S. Basaran, A. Baumer, F. Binkert, L. Brecevic, C. Castellan, K. Chrzanowska, F. Dutly, A. Gutkowska, S. B. Karauzum, M. Krajewska-Walasek, G. Luleci, P. Miny, M. Riegel, S. Schuffenhauer, H. Seidel, A. Schinzel

J Med Genet. 2000 Apr; 37(4): 281–286. doi: 10.1136/jmg.37.4.281

PMCID:: PMC1734569

Summary PDF–130K

Select item 16832463.

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints.

D Warburton

Am J Hum Genet. 1991 Nov; 49(5): 995–1013.

PMCID:: PMC1683246

Summary Page Browse PDF–2.5M

Select item 13771674.

An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation.

D Bodmer, M J Eleveld, M J Ligtenberg, M A Weterman, B A Janssen, D F Smeets, P E de Wit, A van den Berg, E van den Berg, M I Koolen, A Geurts van Kessel

Am J Hum Genet. 1998 Jun; 62(6): 1475–1483. doi: 10.1086/301888